17-ketosteroids and Adrenal-Hyperplasia--Congenital

Congenital adrenal hyperplasia is a group of disorders caused by defects in the adrenal steroidogenic pathways. In its most common form, 21-hydroxylase deficiency, patients develop varying degrees of glucocorticoid and mineralocorticoid deficiency as well as androgen excess. Therapy is guided by monitoring clinical parameters as well as adrenal hormone and metabolite concentrations.. We review the evidence for clinical and biochemical parameters used in monitoring therapy for congenital adrenal hyperplasia. We discuss the utility of 24-h urine collections for pregnanetriol and 17-ketosteroids as well as serum measurements of 17-hydroxyprogesterone, androstenedione, and testosterone. In addition, we examine the added value of daily hormonal profiles obtained from salivary or blood-spot samples and discuss the limitations of the various assays.. Clinical parameters such as growth velocity and bone age remain the gold standard for monitoring the adequacy of therapy in congenital adrenal hyperplasia. The use of 24-h urine collections for pregnanetriol and 17-ketosteroid may offer an integrated view of adrenal hormone production but target concentrations must be better defined. Random serum hormone measurements are of little value and fluctuate with time of day and timing relative to glucocorticoid administration. Assays of daily hormonal profiles from saliva or blood spots offer a more detailed assessment of therapeutic control, although salivary assays have variable quality.

Topics: 17-alpha-Hydroxyprogesterone; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Androstenedione; Biomarkers; Bone Development; Catecholamines; Glucocorticoids; Humans; Mineralocorticoids; Monitoring, Physiologic; Pregnanetriol; Saliva; Testosterone

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Biomarkers; Colorimetry; Cushing Syndrome; Diagnosis, Differential; Female; Humans; Male; Reference Values; Specimen Handling

Topics: 17-Ketosteroids; Adolescent; Adrenal Cortex Hormones; Adrenal Hyperplasia, Congenital; Adult; Child; Cyproterone; Cyproterone Acetate; Desoxycorticosterone; Dexamethasone; Drug Therapy, Combination; Female; Fludrocortisone; Genetic Carrier Screening; Haploidy; HLA Antigens; Humans; Hydrocortisone; Infant, Newborn; Male; Prednisone; Pregnancy; Prenatal Diagnosis

Topics: 17-Ketosteroids; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Androgen Antagonists; Androgens; Cimetidine; Dehydroepiandrosterone; Female; Hirsutism; Humans; Ovarian Neoplasms; Spironolactone; Testosterone

Topics: 17-Ketosteroids; 3-Oxo-5-alpha-Steroid 4-Dehydrogenase; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adult; Androgens; Androstane-3,17-diol; Androstenedione; Cells, Cultured; Child; Dehydroepiandrosterone; Dehydroepiandrosterone Sulfate; Dihydrotestosterone; Estradiol; Female; Fibroblasts; Hirsutism; Humans; Liver; Male; Metabolic Clearance Rate; Ovarian Neoplasms; Polycystic Ovary Syndrome; Sebaceous Glands; Sex Hormone-Binding Globulin; Skin; Testosterone

The ongoing development and gradual availability of the new anti-androgens hold exciting clinical implications for the future. The biosynthesis and interchangeability of the sex steroids, the roles of the ovaries and adrenals and the value and interpretation of biochemical assays in clinical practice are briefly discussed. Because the anti-androgens are used primarily for seborrhoea/acne/hirsutism/oligomenorrhoea, the pathophysiological basis of this socially debilitating syndrome is discussed. The classification of the anti-androgens, their indications, side-effects, dosage schemes and results of treatment are reviewed. Finally, a summary of a possible clinical management regimen is presented.

Topics: 17-Ketosteroids; Acne Vulgaris; Adrenal Hyperplasia, Congenital; Androgen Antagonists; Androgens; Androsterone; Contraceptives, Oral, Hormonal; Cyclopentanes; Cyproterone; Dermatitis, Seborrheic; Dihydrotestosterone; Estradiol Congeners; Female; Follicle Stimulating Hormone; Glucocorticoids; Hirsutism; Humans; Hydroxysteroids; Luteinizing Hormone; Male; Medroxyprogesterone; Nandrolone; Prostatic Neoplasms; Receptors, Androgen; Sex Hormone-Binding Globulin; Steroids; Testosterone

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Androgens; Bone Development; Child; Cortisone; Female; Glucocorticoids; Growth; Humans; Hydrocortisone; Infant; Infant, Newborn; Male; Menstruation; Mixed Function Oxygenases; Pregnanetriol; Sodium Chloride; Spermatogenesis; Virilism

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Androgen-Insensitivity Syndrome; Child; Child, Preschool; Chorionic Gonadotropin; Diagnosis, Differential; Disorders of Sex Development; Female; Genetic Counseling; Genitalia, Female; Genitalia, Male; Humans; Hypospadias; Infant; Klinefelter Syndrome; Male; Mosaicism; Pregnanetriol; Progesterone; Psychosexual Development; Sex Chromosome Aberrations; Transsexualism; Turner Syndrome; Virilism

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Androgen-Insensitivity Syndrome; Diagnosis, Differential; Disorders of Sex Development; Female; Follicle Stimulating Hormone; Genitalia, Female; Genitalia, Male; Gynecomastia; Humans; Hypospadias; Infant; Infant, Newborn; Infant, Newborn, Diseases; Infertility, Male; Karyotyping; Male; Sex Chromatin; Sex Determination Analysis; Testosterone; Virilism

Topics: 17-Ketosteroids; Adrenal Glands; Adrenal Hyperplasia, Congenital; Androgens; Androstanes; Androstenols; Blood Proteins; Electrophoresis, Starch Gel; Female; Hirsutism; Humans; Hypertrichosis; Leydig Cell Tumor; Liver; Metabolic Clearance Rate; Ovarian Cysts; Ovarian Neoplasms; Ovary; Testosterone; Virilism

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Amniocentesis; Amniotic Fluid; Carbon Dioxide; Chromosome Aberrations; Chromosome Disorders; Congenital Abnormalities; Down Syndrome; Embryonic and Fetal Development; Erythroblastosis, Fetal; Estriol; Female; Fetal Diseases; Humans; Mucopolysaccharidoses; Oxygen; Pregnancy; Pregnanetriol; Rh-Hr Blood-Group System; Sex Chromatin; Sex Determination Analysis

Topics: 17-Ketosteroids; Adolescent; Adrenal Gland Diseases; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Child; Child, Preschool; Dehydration; Female; Glucocorticoids; Humans; Hyperplasia; Hypertension; Infant; Infant, Newborn; Male; Mixed Function Oxygenases; Oxidoreductases; Pylorus; Virilism; Vomiting; Water-Electrolyte Balance

Topics: 17-Ketosteroids; Adrenal Cortex Hormones; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Female; Hirsutism; Humans; Hydrocortisone; Karyotyping; Male; Sex Factors; Sodium; Sodium Chloride; Virilism

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adult; Anabolic Agents; Elasticity; Electrolytes; Estrogens; Female; Humans; Ovary; Virilism; Voice

To assess whether treatment of virilizing congenital adrenal hyperplasia (CAH) with long-acting glucocorticoids is associated with favorable growth outcomes.. We examined the long-term growth of 17 boys and 9 girls with CAH treated with dexamethasone (.27 +/-.01 mg/m(2)/day).. For individuals with comparable bone age (BA) and chronological age (CA) at the onset of dexamethasone therapy, males were 2.8 +/-.8 years (mean +/- standard error of the mean; n = 13) and females were 2.4 +/- 1.0 years (n = 6). Males were treated for 7.3 +/- 1.1 years (DeltaCA) over which time the change in BA (DeltaBA) was 7.0 +/- 1.3 years, and the change in height age (DeltaHA) was 6.9 +/- 1.1 years. Females were treated for 6.8 +/- 1.3 years, over which time the DeltaBA was 6.5 +/- 1.0 years, and the DeltaHA was 6.3 +/-.8 years. During treatment 17 ketosteroid excretion rates were normal for age and 17-hydroxyprogesterone values were 69.6 +/- 18 ng/dL. Testicular enlargement was first detected at 10.7 +/-.8 years and breast tissue at 9.9 +/- 1.2 years. Three boys and 1 girl had final heights of 171. 8 +/- 6 cm and 161 cm, respectively, compared with midparental heights of 176.1 +/- 4.1 cm and 160 cm. Predicted adult heights for 6 other boys and 5 girls were 176.8 +/- 2.0 cm and 161.4 +/- 2.8 cm, respectively, compared with midparental heights of 174.6 +/- 1.4 cm and 158.2 +/- 2.0 cm. Statural outcomes were less favorable for 7 children started on dexamethasone when BAs were considerably advanced, although height predictions increased during therapy.. These observations show that children treated with dexamethasone for CAH can achieve normal growth with the convenience of once-a-day dosing in most cases.congenital adrenal hyperplasia, dexamethasone, growth.

Topics: 17-alpha-Hydroxyprogesterone; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Age Determination by Skeleton; Bone Development; Child, Preschool; Dexamethasone; Female; Glucocorticoids; Growth; Humans; Male

To explore the potential effect of dose schedule on the adrenal suppressive action of hydrocortisone in congenital adrenal hyperplasia, eight patients (six with 21-hydroxylase deficiency and two with 11-hydroxylase deficiency) were given five different dose schedules. Two of the schedules used single daily doses (morning or evening), two twice daily doses (two-thirds dose in the morning or evening), one and three equal doses at morning, noon, and night. Each dose schedule used the same total daily hydrocortisone dose (12.5 mg/m2/day), which is within the normal range of hydrocortisone production rate. Each schedule was given for 4 to 6 weeks. The different dose schedules caused the predicted alterations in the temporal pattern of adrenal steroid levels, with the greatest apparent suppression during the 2 to 4 hours after each dose. None of the schedules, however, caused significant differences in the mean 24-hour plasma concentration of 17-hydroxyprogesterone (21-hydroxylase deficiency) or 11-deoxycortisol (11-hydroxylase deficiency) or in the 24-hour urine pregnanetriol or 17-ketosteroid concentrations, either in the six patients undertreated at the dose of 12.5 mg/m2/day or in the two patients adequately treated. Nocturnal administration of all or a part of the daily dose did not improve adrenal suppression. These observations suggest that treatment of congenital adrenal hyperplasia with a once-a-day hydrocortisone dose schedule may be as effective as conventional multiple-dose schedules. Until this hypothesis has been tested by more extended clinical studies, however, we do not recommend a once-a-day schedule. Regardless of the dose schedule, the total daily hydrocortisone dose must be adjusted to achieve a normal rate of growth and bone age advancement.

Topics: 17-alpha-Hydroxyprogesterone; 17-Ketosteroids; Adolescent; Adrenal Cortex Hormones; Adrenal Hyperplasia, Congenital; Adult; Child; Cortodoxone; Drug Administration Schedule; Female; Humans; Hydrocortisone; Hydroxyprogesterones; Male; Pregnanetriol

Both pregnenolone and 17-OH-pregnenolone were found to be higher in the plasma of patients with poorly controlled congential adrenal hyperplasia than in normal subjects. The plasma levels of these precursor steroids were significantly correlated with urinary 17-ketosteroid and pregnanetriol excretion and with plasma testosterone. The mechanism where by plasma pregnenolone and 17-OH-pregnenolone levels are elevated in patients with 21-hydroxylase deficiency is unknown, but the phenomenon of product inhibition is suggested as a possible explanation. As 17-OH-pregnenolone in plasma is almost entirely of adrenal origin, its measurement promises to be useful in the management of patients with congenital adrenal hyperplasia. Acute stimulation with ACTH caused negligible changes in the plasma levels of pregnenolone and 17-OH-pregnenolone and failed to distinguish between overly, appropriately, and under-treated patients. However, following repeated stimulation with repository ACTH, the steroid levels rose. These findings indicate limited adrenal responsiveness to ACTH following chronic glucocorticoid treatment of congenital adrenal hyperplasia, even in under-treated patients, and suggest that normal precursor steroid levels in plasma and normal 17-ketosteroid and pregnanetriol excretion can only be achieved by the suppression of total steroidogenesis to less than that occurring in normal subjects.

Topics: 17-alpha-Hydroxypregnenolone; 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adrenocorticotropic Hormone; Adult; Child; Child, Preschool; Clinical Trials as Topic; Female; Humans; Hydrocortisone; Hyperplasia; Infant; Male; Pregnanetriol; Pregnenolone; Progesterone Reductase; Steroid Hydroxylases; Testosterone

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adrenocorticotropic Hormone; Binding, Competitive; Blood Proteins; Child; Child, Preschool; Circadian Rhythm; Clinical Trials as Topic; Dexamethasone; Female; Fludrocortisone; Glucocorticoids; Humans; Hydrocortisone; Hydroxyprogesterones; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Pituitary-Adrenal Function Tests; Pituitary-Adrenal System; Protein Binding; Steroid Hydroxylases

Topics: 17-alpha-Hydroxypregnenolone; 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adrenalectomy; Adrenocorticotropic Hormone; Adult; Aminoglutethimide; Androsterone; Aniline Compounds; Anticonvulsants; Chemistry, Clinical; Clinical Trials as Topic; Dehydroepiandrosterone; Depression, Chemical; Dexamethasone; Etiocholanolone; Female; Humans; Metabolism, Inborn Errors; Metyrapone; Mixed Function Oxygenases; Pregnanetriol; Pyridones

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adult; Circadian Rhythm; Clinical Trials as Topic; Cortisone; Dexamethasone; Female; Humans; Hydrocortisone; Hyperplasia; Male; Metabolism, Inborn Errors; Mixed Function Oxygenases; Pregnanetriol

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adult; Child; Child, Preschool; Cushing Syndrome; Female; Humans; Infant; Male

In spite of significant changes in the management policies of intersexuality, clinical evidence show that not all pubertal or adult individuals live according to the assigned sex during infancy.. The purpose of this study was to analyze the clinical management of an individual diagnosed as a female pseudohermaphrodite with congenital adrenal hyperplasia (CAH) simple virilizing form four decades ago but who currently lives as a monogamous heterosexual male.. We studied the clinical files spanning from 1965 to 1991 of an intersex individual. In addition, we conducted a magnetic resonance imaging (MRI) study of the abdominoplevic cavity and a series of interviews using the oral history method.. Our analysis is based on the clinical evidence that led to the CAH diagnosis in the 1960s in light of recent clinical testing to confirm such diagnosis.. Analysis of reported values for 17-ketosteroids, 17-hydroxycorticosteroids, from 24-hour urine samples during an 8-year period showed poor adrenal suppression in spite of adherence to treatment. A recent MRI study confirmed the presence of hyperplastic adrenal glands as well as the presence of a prepubertal uterus. Semistructured interviews with the individual confirmed a life history consistent with a male gender identity.. Although the American Academy of Pediatrics recommends that XX intersex individuals with CAH should be assigned to the female sex, this practice harms some individuals as they may self-identify as males. In the absence of comorbid psychiatric factors, the discrepancy between infant sex assignment and gender identity later in life underlines the need for a reexamination of current standards of care for individuals diagnosed with CAH.

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adult; Diagnosis, Differential; Disorders of Sex Development; Female; Gender Identity; Humans; Magnetic Resonance Imaging; Male; Medical History Taking; Middle Aged; Puerto Rico

Late-onset 21-hydroxylase deficiency (21-OHD) is a congenital enzymatic defect in the glucocorticoid and mineralocorticoid steroidogenic pathways. The manifestations, including hirsutism and infertility, usually occur at puberty or young adulthood. In infertile, anovulatory women with late-onset 21-OHD, the usual therapy is glucocorticoids for ovulation induction. In this case, we report the sole use of clomiphene citrate to induce ovulation in a patient with late-onset 21-OHD. A hirsute and oligomenorrheic woman was diagnosed as having polycystic ovary syndrome at age 25. Her hirsutism responded to oral contraceptives. At age 31, she was given clomiphene citrate alone for ovulation induction and conceived in her fourth cycle. At age 36, because of increased hirsutism she was diagnosed with late-onset 21-OHD by an ACTH stimulation test. The induction of ovulation in late-onset 21-OHD patients has been with glucocorticoids. Given the success in inducing ovulation with clomiphene citrate alone in this patient with well-documented late-onset 21-OHD, it may be worthwhile to study the sole use of clomiphene citrate for ovulation induction in these patients.

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Cortex Hormones; Adrenal Hyperplasia, Congenital; Adult; Clomiphene; Female; Fertility Agents, Female; Hirsutism; Hormones; Humans; Infertility, Female; Ovulation; Ovulation Induction; Polycystic Ovary Syndrome; Testosterone

In 32 women with signs of androgenization, menstrual disturbances and distinct elevated values of 17-KS, DHEA, pregnantriole, testosterone and very reduced level of 17-OHCS congenital adrenal hyperplasia was diagnosed which established 12.5% individuals with intersexualism. The method of conservative or/and operative treatment and the prognosis were discussed.

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Dehydroepiandrosterone; Female; Humans; Pregnenediones; Prognosis; Testosterone

The dose of glucocorticoid was evaluated in the treatment of 19 patients with salt-losing congenital adrenal hyperplasia due to complete or nearly complete 21-hydroxylase deficiency. In most cases, follow-up was from infancy to puberty. The dose of steroid was expressed as oral cortisol (mg/m2 body surface area/24 hours); the equivalent doses of the various glucocorticoid preparations was as follows: 100 mg oral cortisol = 120 mg oral cortisone acetate = 25 mg oral prednisone = 50 mg intramuscular cortisol = 60 mg intramuscular cortisone acetate. The dose of glucocorticoid producing good laboratory and clinical control varied significantly with age. The dose fell from 26 mg/m2/24 hours in early infancy to 19 mg/m2/24 hours between 6 and 8 years of age, and then rose to 23-24 mg/m2/hour in adolescence. In addition to these age-related changes, there were large individual variations at each age. Indeed, the values from 4 of the 19 patients were not included in the calculation of the mean because they were more than 3 SD either above or below the mean. For the rest of the patients, the coefficient of variation ranged from 14.5% to 37.2%. It is concluded that glucocorticoid therapy must be adjusted carefully to the age and needs of each patient.

Topics: 17-Ketosteroids; Administration, Oral; Adolescent; Adrenal Hyperplasia, Congenital; Age Determination by Skeleton; Age Factors; Body Height; Body Surface Area; Child; Child, Preschool; Circadian Rhythm; Female; Follow-Up Studies; Glucocorticoids; Humans; Injections, Intramuscular; Male; Therapeutic Equivalency

On the basis of clinical and hormonal investigations of 58 girls with hirsutism aged between 15-19 years there were confirmed congenital adrenal hyperplasia in 3.4%, late onset adrenal hyperplasia in 24.1% and polycystic ovary syndrome in 72.4%. The proper diagnosis were established above all on endocrinological investigations especially on determinations of 17- ketosteroids, of DHEA, of 17 OH-corticoids in urine and RIA of total and free testosterone in blood.

Topics: 17-Ketosteroids; Adolescent; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adult; Dehydroepiandrosterone; Female; Hirsutism; Humans; Hyperplasia; Polycystic Ovary Syndrome; Testosterone

One hundred and fourteen nontumorous hirsute women were investigated. The degree of hirsutism, the menstrual abnormalities and the level of 17-ketosteroids, of DHEA, of 17-OH-corticoids in urine and RIA of total and free testosterone and of sex binding globulins (SHBG) in blood were performed. On the basis of endocrinological and ultrasonographic determinations 3 patients were diagnosed as congenital adrenal hyperplasia, 35 patients as late onset adrenal hyperplasia and 57 women as polycystic ovary syndrome (PCO). The maximal mean level (X + SD) of total and free testosterone above 0.5 ng/ml relatively above 5.05 pg/ml were performed in 94.3% relatively 97.1% in late onset adrenal hyperplasia and in 78.9% relatively 87.7% in PCO. The diagnosis of PCO is possible among 75% of all hirsute patients after exclusion the patients with late onset adrenal hyperplasia. The PCO is confirmed by hormonal or/and ultrasonographic examination. The diagnosis of late onset adrenal hyperplasia is allowable only by hormonal investigation.

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Amenorrhea; Dehydroepiandrosterone; Female; Gonadal Steroid Hormones; Hirsutism; Humans; Polycystic Ovary Syndrome; Sex Hormone-Binding Globulin; Testosterone; Ultrasonography

To determine whether serum 3 alpha-androstanediol glucuronide (3AG) reflects the overall effect of integrated adrenal androgen secretion in the virilizing form of congenital adrenal hyperplasia (CVAH), circadian levels (0800, 1200, 1600, and 2000 h) of serum 3AG and 17-hydroxyprogesterone (17OHP) or 11-deoxycortisol (S), androstenedione (A), testosterone (T), and 24-h urinary 17-ketosteroids (17KS) were examined in seven patients (pts) with classical 21-hydroxylase deficiency (21OHD) and one pt with classical 11 beta-hydroxylase deficiency (11 beta OHD). Hormonal studies were conducted during the second day of dexamethasone (Dex) administration (2 mg/day). In five poorly controlled CVAH pts, including the 11 beta OHD pt, highly elevated baseline morning (AM) serum 17OHP or S as well as A levels, and elevated AM T levels in three pts decreased markedly in the evening (PM), while elevated serum 3AG showed no significant circadian changes; 17KS levels were markedly elevated for age. During Dex, moderately or slightly elevated AM 17OHP, A, or T in two to four pts with 21OHD decreased to the normal range in the PM. In the pt with 11 beta OHD, S, A, and T levels were suppressed. 3AG levels were modestly elevated or normal, without circadian changes, in these pts; 17KS levels were elevated or normal. In two other 21OHD pts, modestly elevated AM baseline 17OHP and A levels decreased in the PM; elevated AM T decreased in one pt in the PM; modestly elevated 3AG levels showed no circadian changes; 17KS levels were modestly elevated. During Dex, normal or slightly elevated serum steroids and 17KS levels were associated with normal or high normal 3AG levels without circadian changes. In one postpubertal female with 21OHD, modestly elevated AM baseline 17OHP levels decreased at 2000 h; normal A and T levels throughout the day and low normal 17KS were associated with slightly low 3AG levels, without circadian variation. During Dex treatment, normal 17OHP, A, T, and low 17KS levels were associated with low 3AG levels without circadian variation. In all pts as a group, an excellent correlation (r = 0.9) was found between either 0800 h or mean, or 2000 h serum 3AG levels and 17KS. In addition, AM and PM serum 3AG levels in five normal women were similar. We conclude that the high correlation between serum 3AG and urinary 17KS and the absence of a significant circadian variation in 3AG indicate that serum 3AG, regardless of sample time, is a useful metabolic index of integr

Topics: 17-alpha-Hydroxyprogesterone; 17-Ketosteroids; Adolescent; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adult; Androgens; Androstane-3,17-diol; Androstenedione; Child; Child, Preschool; Circadian Rhythm; Cortodoxone; Dexamethasone; Female; Humans; Hydroxyprogesterones; Testosterone

The authors divided forty children and adolescents with inborn adrenal hyperplasia caused by a block of 21-hydroxylase of steroids (CAH) according to clinical criteria into adequately and inadequately treated. Substitution treatment with hydrocortisone or hydrocortisone combined with fludrocortisone was administered three times a day in individual doses. In order to find an adequate indicator of the adequacy of therapy, the authors assessed in addition to total urinary 17-oxosteroids also 17 alpha-hydroxyprogesterone, androstenedione and 11 beta-hydroxyandrostenedione in serum. The values of urinary 17-oxosteroids did not correspond to the clinical condition of the children; in younger children three was a high percentage of falsely positive and in older children of falsely negative results. As to serum steroids, the most suitable indicator for monitoring was 17-hydroxyprogesterone. The authors consider its levels above 30 nmol/l as a basis for consideration of raising therapeutic doses, while levels below 2.2 nmol/l signalize possible overdosage of the drug. Concurrently elevated levels of 17-hydroxyprogesterone and androstenedione are found in particularly inadequately treated children. 11 beta-hydroxyandrostenedione is not a useful indicator for monitoring of CAH treatment. In any case it is necessary, when controlling CAH therapy, to select an individual procedure and to evaluate results in the context with the patient's clinical condition.

Topics: 17-alpha-Hydroxyprogesterone; 17-Ketosteroids; Adolescent; Adrenal Cortex Hormones; Adrenal Hyperplasia, Congenital; Adult; Androstenedione; Child; Child, Preschool; Humans; Hydroxyprogesterones; Infant

The diagnosis of non-classical 3 beta-hydroxysteroid dehydrogenase deficiency (NC-3BHSD) is made either on the basis of significantly elevated serum levels of basal and post-ACTH 5-ene-steroids or by the presence of elevated urinary 5-ene-steroid metabolites. There has been only one report to date describing a single patient where the diagnosis was based on both serum and urinary 5-ene-steroid levels. We, therefore, measured both serum 5-ene-steroid responses to ACTH 1-24 (by RIA) and urinary 5-ene-steroid metabolites (GC-MS) in 42 hirsute premenopausal women. While the serum 5-ene-steroid profile was consistent with NC-3BHSD in 5 women, only 2 of them had increased excretion of 5-ene-steroid metabolites. Elevated 5-ene-steroid excretion was also observed in several patients with normal serum 5-ene-steroids. Detection of NC-3BHSD by either elevated serum 5-ene-steroids or increased urinary excretion of their metabolites in isolation may not therefore be reliable.

Topics: 17-Ketosteroids; 3-Hydroxysteroid Dehydrogenases; Adolescent; Adrenal Hyperplasia, Congenital; Adult; Cosyntropin; Female; Humans; Male; Pregnenes; Stimulation, Chemical

We present an unusual patient with a Leydig cell tumor to show that greatly elevated serum concentrations of 17-hydroxyprogesterone (17OHP) may not be diagnostic of congenital adrenal hyperplasia (CAH). A 3.5-yr-old boy had a small testicular mass and plasma 17OHP concentrations of 147-333 nmol/L (4,850-11,000 ng/dL), suggesting CAH with adrenal rests. However, normal plasma cortisol values and the unresponsiveness of the 17OHP concentration to dexamethasone suppression or ACTH stimulation suggested a diagnosis of Leydig cell tumor. A 4-fold elevation in plasma 21-deoxycortisol compared with a 200-fold elevation in 17OHP suggested that the elevated 17OHP derived from the normal pathway of testosterone synthesis in the testis. This was proven by normalization of all hormonal values after tumor resection. Compared to the abundance of mRNA for P450c17, the tumor contained unusually large amounts of mRNA for P450scc, the cholesterol side-chain cleavage enzyme, which is the rate-limiting step in steroid hormone synthesis. Increased P450scc activity, which increased the conversion of cholesterol to pregnenolone, apparently permitted the 17,20-lyase activity of P450c17 to become rate limiting, thus accounting for the increased secretion of 17OHP. Thus, Leydig cell tumors can produce quantities of 17OHP previously reported only in CAH due to 21-hydroxylase deficiency. The molecular characterization of steroidogenic mRNAs in this tumor indicates an unusual ratio in the expression of the genes for the steroidogenic enzymes, probably accounting for the unusual pattern of serum steroids.

Topics: 17-alpha-Hydroxyprogesterone; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Child, Preschool; Cosyntropin; Dehydroepiandrosterone; Dehydroepiandrosterone Sulfate; Humans; Hydrocortisone; Hydroxyprogesterones; Leydig Cell Tumor; Male; Pregnanetriol; Testicular Neoplasms; Testosterone

The paper treats of current diagnostic criteria for congenital dysfunction of the adrenal cortex in children. They include investigation of HLA-antigens, identification of heterozygote and homozygote carriership, prenatal diagnosis of the disease, and the screening tests. The leading position in the disease diagnosis is assigned to its clinical manifestations, measurement of 17-hydroxyprogesterone and testosterone in blood serum together with excretion of 17-ketosteroids with urine. Emphasis is laid on the importance of early disease diagnosis and establishment of sex appurtenance, which is promoted by studies of sex chromatin, karyotype and ultrasonic scanning of the internal genitalia. The treatment policy for patients with congenital dysfunction of the adrenal cortex has been elaborated as have been its aspects: hormonal, surgical and psychotherapeutic. The treatment protocols using current hormonal drugs with changes in conventional time of their intake are described in detail. The long-term results of hormonal therapy are provided on the basis of large clinical material (over 500 patients with congenital dysfunction of the adrenal cortex were examined).

Topics: 17-alpha-Hydroxyprogesterone; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Female; Fetal Diseases; Humans; Hydroxyprogesterones; Infant; Infant, Newborn; Male; Pregnancy; Prenatal Diagnosis; Testosterone

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adult; Dexamethasone; Female; Humans; Hydrocortisone; Israel; Jews; Testosterone

A six-month-old 46,XY infant with a female phenotype and ambiguous genitalia was evaluated for male pseudohermaphroditism. The principal findings were (1) low basal plasma levels of all measured C19 steroids and their sulfates, which were unchanged or only minimally increased after stimulation with human chorionic gonadotropin or ACTH, (2) no urinary metabolites of C19 11-deoxy steroids, and decreased amounts of C19 11-oxosteroids, (3) normal basal plasma cortisol levels and normal urinary excretion of cortisol metabolites, (4) high plasma corticosterone and deoxycorticosterone levels and elevated urinary excretion of their metabolites, (5) high plasma progesterone and pregnenolone levels and increased urinary excretion of pregnanediol and pregnenediol, (6) high plasma 17 alpha-hydroxyprogesterone and 21-deoxycortisol levels and increased urinary excretion of pregnanetriol, 17 alpha-hydroxypregnanolone, and pregnenetriolone, (7) high plasma and urinary levels of 5-pregnene-3 beta,20 alpha-diol sulfate, (8) low plasma levels of 21-hydroxy-pregnenolone and 5-pregnene-3 beta,17 alpha, 20 alpha-triol sulfate, (9) high plasma ACTH levels, and (10) suppression of the high plasma steroid levels by dexamethasone. The unusual pattern of plasma and urinary steroids indicated that this child had multiple abnormalities of steroid-biosynthetic microsomal mixed-function oxidases--21-hydroxylase, 17 alpha-hydroxylase, and 17,20 desmolase. The deficit in the activities of the first two enzymes resulted in decreased cortisol synthesis with subsequent increased ACTH secretion and adrenocortical hyperplasia. The male pseudohermaphroditism resulted from deficient testosterone synthesis due to deficiency of 17 alpha-hydroxylase and 17,20 desmolase. The mother and two sisters of the affected child had evidence of mild 17 alpha-hydroxylase deficiency.

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; 18-Hydroxycorticosterone; 18-Hydroxydesoxycorticosterone; Adrenal Hyperplasia, Congenital; Aldehyde-Lyases; Aldosterone; Androstenedione; Corticosterone; Cortodoxone; Dehydroepiandrosterone; Dehydroepiandrosterone Sulfate; Desoxycorticosterone; Dihydrotestosterone; Disorders of Sex Development; Humans; Hydrocortisone; Infant; Male; Mixed Function Oxygenases; Pregnenolone; Progesterone; Steroid Hydroxylases; Testosterone

An in vitro study has been made of the steroid metabolism in the abdominal skin in two hirsute women with adrenogenital syndrome, and the concentrations of the various steroids in the skin tissue have been determined. The urinary excretion of the total 17-Ks, and particularly P-triol, was pathologically high, while of the androgens examined in the serum, primarily the levels of delta 4-dione and Test, were found to be elevated. The 21-hydroxylase deficiency meant that the plasma ACTH level was likewise extremely high in both patients. In vitro incubation studies demonstrated that in one patient (with the higher androgen overproduction) more Test. than normal was formed from the precursors (DHA, delta 5-diol, delta 4-dione), i.e. the biosynthetic pathway (17 beta-HSD, delta 5-3 beta-HSD) leading towards the androgens was enhanced in the abdominal skin. In the other patient (where the androgen production was less high as a consequence of the earlier adrenalectomy) the metabolism in the abdominal skin was not enhanced; indeed, for many metabolites the extent of the transformation did not even attain the level for normal women. The activity of Test. 5 alpha-reductase was not increased in the skin of either patient. The results on the steroid contents of the skin tissue revealed that numerous free steroids (DHA, And., delta 4-dione, delta 5-diol, Test., DHT) and C19-steroid sulphates were present in higher concentrations than in the abdominal skin of healthy women. The extents of steroid accumulation compared to the serum level in the same patient were pathologically high in the case of delta 5-diol, DHT and DHA-S in the abdominal skin of the two hirsute women with adrenogenital syndrome. This confirmed that a state of hyperandrogenism does exist in the skin of these patients.

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Abdominal Muscles; Adolescent; Adrenal Hyperplasia, Congenital; Adult; Androgens; Androstenediol; Androstenedione; Dehydroepiandrosterone; Female; Hirsutism; Humans; Male; Middle Aged; Pregnanetriol; Skin; Sulfates; Testosterone

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Dehydroepiandrosterone; Female; Hirsutism; Humans; Steroid Hydroxylases; Testosterone

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Age Factors; Desoxycorticosterone; Electrolytes; Female; Genitalia, Female; Humans; Hydrocortisone; Infant, Newborn; Karyotyping; Male; Sex Chromatin; Sodium

Twenty five patients (10 males and 15 females) aged 0-23 yr with congenital adrenal hyperplasis due to 11 beta-hydroxylase deficiency were studied. They were divided into 13 classic (group A), and 12 mild (group B) patients. The patients of group A were diagnosed at a younger age and had more severe clinical symptoms (ambiguous genitalia in girls, pseudoprecocious puberty in boys). Two had neonatal salt wasting before treatment, and one gynecomastia. Seven had moderate to severe hypertension. Their mean 3 alpha,17,21-trihydroxy-5 beta-pregnan-20-one (THS) and 3 alpha, 21-dihydroxy-5 beta-pregnane-11,20-dione (THDOC) excretion was 14.2 +/- 4.1 and 7.2 +/- 4.2 mg/m2 . day, respectively. The patients of group B had mostly late onset of symptoms (hirsutism, amenorrhea in girls, pseudoprecocious puberty in boys, tall stature, and advanced bone age in both sexes). One boy had bilateral cryptorchidism. Four had moderate hypertension. In seven patients, THS (5.3 +/- 2.3 mg/m2 . day) and THDOC (3.9 +/- 0.5 mg/m2 . day) responded to ACTH. In five, only THS (4.3 +/- 1.1 mg/m2 . day) responded, but THDOC remained undetectable. It is concluded that the clinical and biochemical expression of 11 beta-hydroxylase deficiency is variable, that hypertension in not directly related to deoxycorticosterone, and that, regardless of the intensity of the defect, there are patients in whom the 11 beta-hydroxylation of 17 alpha-hydroxylated steroids only is impaired, and others in whom both the conversion of 17,20-dihydroxy-4-pregnene-3,20-dione and deoxycorticosterone are reduced.

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adult; Child; Child, Preschool; Cortodoxone; Female; Humans; Hydrocortisone; Infant, Newborn; Male; Pregnanediones; Pregnanetriol; Steroid Hydroxylases

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Humans; Infant; Male

Serum concentrations of 17-hydroxyprogesterone, dehydroepiandrosterone, dehydroepiandrosterone sulfate, progesterone, testosterone, and androstenedione and 24-hour excretion of 17-ketosteroids and pregnanetriol were measured serially in 18 children with congenital adrenal hyperplasia (21-hydroxylase deficiency) during a two-year period. Correlations were sought between results of measurements of these steroids and clinical progress assessed by physical examination and skeletal maturity to determine if measurement of concentration of these substances at a single point in time could be used to gauge the dose of corticosteroids for optimum treatment. We found that these measurements of steroids were generally not useful indicators of optimum control of the disease. Repeated careful clinical examination and assessment of changes in growth velocity and skeletal maturation seem to be the best criteria on which to base dosage of corticosteroids used for therapy.

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Age Determination by Skeleton; Child; Child, Preschool; Dose-Response Relationship, Drug; Female; Hormones; Humans; Infant; Male; Pregnanetriol

Topics: 17-Ketosteroids; Adrenal Cortex Neoplasms; Adrenal Glands; Adrenal Hyperplasia, Congenital; Atrophy; Carcinoma; Child; Female; Humans; Virilism

Two cases of 17 alpha-hydroxylase deficiency are described. Both patients had primary amenorrhoea, total lack of female secondary sexual characteristics, slight hypertension and hypokalaemia. One patient was of male genotype (male pseudohermaphrodite), and in addition this patient had complete gonadal agenesis. The other patient was of female genotype. In both patients the level of plasma corticosterone was markedly increased, whereas the concentration of plasma cortisol was very low and plasma aldosterone low within the normal range. Furthermore, the plasma ACTH level was significantly increased and the plasma renin activity around the lower normal limit. The urinary excretion of corticosterone metabolites was markedly increased, whereas the excretion of both cortisol metabolites and tetrahydroaldosterone was decreased. The patients had no symptoms of glucocorticoid deficiency. Treatment with dexamethasone 0.5 mg daily completely suppressed the abnormal corticosterone production and normalized both blood pressure and serum potassium. In addition, the patient of male genotype has received sequential therapy with oestrogen and gestagen for 3 years, but so far no development of the secondary sexual characteristics has occurred.

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adult; Aldosterone; Corticosterone; Dexamethasone; Estrogens; Female; Genotype; Gonadal Dysgenesis; Humans; Hydrocortisone; Male; Progesterone; Renin; Steroid Hydroxylases

Five females with idiopathic hirsutism, ten with adrenogenital syndrome, four with acne vulgaris, and three with Stein-Leventhal syndrome were treated for nine months with large or small doses of cyproterone acetate (100 or 2 mg daily, respectively) in combination with oestrogen. The drug had a good effect on the acne vulgaris and moderated the hirsutism. In the various patient groups the serum testosterone level was decreased to between 58.6% (+/- 28.7% S.E.) and 10.8% (+/- 8.2% S.E.) of the basal value. No essential difference in effectiveness was observed between the large and small doses. Based on study of the side-effects, it is recommended that laboratory liver tests are used for control.

Topics: 17-Ketosteroids; Acne Vulgaris; Adolescent; Adrenal Hyperplasia, Congenital; Adult; Alanine Transaminase; Aspartate Aminotransferases; Cyproterone; Cyproterone Acetate; Female; Hirsutism; Humans; Hydrocortisone; Polycystic Ovary Syndrome; Testosterone

A simple computer program consisting of 445 steps for a low-cost desk-top calculator (Hewlett-Packard 97) to be applied in chromatographic analyses of 17-ketosteroids and pregnanes from human urine samples is described. This program permits the calculation of peak factors following the chromatographic separation of an external standard mixture containing up to ten different fractions, the subsequent printout of the constants and their transcription to magnetic data cards for later retrieval when making calculations for unknown samples. After manual input of sample constants (such as total and aliquot volumes, recovery as determined by addition of radioactive tracer steroid, internal standard) and peak factors via the data card, the individual peak heights of the samples are automatically converted to milligrams of steroid in 24-h urine and each is stored separately. All fractions can be recalled later and printed out in the order of detection or can be transformed into several diagnostically valuable parameters such as the total sum of 17-ketosteroids and pregnanes excreted, the group sums of androgens, of 11-substituted steroids and of pregnanes, the individual percentages of both the fractions and the group sums, and the ratios of aetiocholanolone-androsterone and of pregnanetriol-pregnanediol. Finally, an extension subprogram can automatically generate a plot to illustrate the steroid excretion pattern in a comprehensive fashion.

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Child; Chromatography, Gas; Computers; Female; Humans; Male; Pregnanes

The authors report on a case where complete blockade of 21-hydroxylase was discovered in a 40-year-old subject. They emphasize the usefulness of urinary 17-ketosteroid and 17-OH progesterone assays in the diagnosis of pseudo-hermaphroditism. In contrast to major hyperandrogenism, the HY antigen test is negative, since the percentage of fluorescent lymphocytes is even lower than in the normal female population.

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Disorders of Sex Development; Female; Humans; Hydroxyprogesterones; Steroid Hydroxylases

The results of reintroduction of mineralocorticoid substitution therapy (9-alpha-fluorohydrocortisone) in five children with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency are described. All children had shown a salt-losing syndrome in infancy, but were off mineralocorticoids during several years; at the start of this study they all had elevated plasma renin activity (PRA). Four of them had increased and fluctuating pregnanetriol excretion during the year preceding reintroduction of mineralocorticoids, indicating poor control despite substantial substitution with hydrocortisone: 26 +/- 1.9 mg/m2/day (mean +/- S.E.M.). Reintroduction of mineralocorticoid therapy at ages 5.0-9.4 years resulted in a marked improvement of control, significant reduction in hydrocortisone requirements (to 17.6 +/- 1.4 mg/m2/day) and improvement in linear growth. The data suggest that, in all children with CAH and elevated PRA, continuation throughout childhood of mineralocorticoid therapy in addition to glucocorticoid therapy is necessary for optimal control and linear growth.

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Child; Child, Preschool; Female; Growth; Humans; Hydrocortisone; Male; Mineralocorticoids; Pregnanetriol; Renin

In 11 children aged between 2 and 17 years with (nonsalt-losing) congenital adrenal hyperplasia (21-hydroxylase deficiency) blood was drawn at 90-minute intervals during a 24-hour period and levels of 17-hydroxyprogesterone, testosterone, and cortisol were measured. Levels of 17-ketosteroids and pregnanetriol were measured too in 24-hour urine samples. These measurements were taken under different regimens of treatment and after interruption of treatment. Cortisol level rose and fell rapidly after administered corticosteroid, and reached unphysiologically high levels. Testosterone levels showed pronounced variations but stayed in the normal range for most of the time even in untreated patients; thus testosterone provides a poor control parameter. Levels of 17-hydroxyprogesterone showed extreme fluctuations and very high peak levels in untreated patients; standard treatment with two or three daily doses of corticosteroids did not prevent a pronounced rise in its level after midnight. After the first morning dose of hydrocortisone a very steep fall was observed. The 24-hour pregnanetriol excretion correlated well with the corresponding total integrated 17-hydroxyprogesterone area. It is concluded that single 17-hydroxyprogesterone values are unlikely to give adequate information about the quality of treatment.

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Child; Child, Preschool; Circadian Rhythm; Female; Humans; Hydrocortisone; Hydroxyprogesterones; Male; Prednisone; Pregnanetriol; Testosterone

Topics: 11-Hydroxycorticosteroids; 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adult; Chorionic Gonadotropin; Dexamethasone; Female; Humans; Mestranol; Testosterone

Abnormal menstrual patterns occur frequently in adolescent girls with congenital adrenal hyperplasia (CAH). In this report, two sisters with CAH secondary to the 21-hydroxylase defect are described in whom the administration of dexamethasone, a long-acting glucocorticoid, initiated or regulated their menstrual cycles. Plasma levels of 17-hydroxyprogesterone and androstenedione were elevated while on therapy with 80 mg/day of hydrocortisone, and became normal after treatment with daily dexamethasone, 1.5 mg. Urinary excretion of 17-ketosteroids and pregnanetriol showed a similar pattern. Plasma steroid levels remained suppressed after lowering ther dexamethasone dose to 0.75 mg daily, an amount equivalent to less than the original hydrocortisone dose. These data suggest that dexamethasone has a potential role in the management of patients with CAH who have menstrual irregularities, particularly if conventional therapy does not suppress adrenal steroid production.

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adult; Androstenedione; Dexamethasone; Female; Gonadal Steroid Hormones; Humans; Hydroxyprogesterones; Menstruation Disturbances; Pregnanetriol; Testosterone

Four cases in adults of a deficiency in the 11 beta-hydroxylation of corticosteroids were investigated by both basal and dynamic biological studies. Symptoms varied from patient to patient; hirsutism, menstrual disturbance, acne, deepening of the voice, and arterial hypertension appeared post puberty. Basal testing demonstrated elevated levels of plasma androgens. These include delta 4-androstenedione (patients, 3.80-6.43 ng/ml; normal, 1.33 +/- 0.33 ng/ml), urinary 17-ketosteroids (patients, 11.8-16.7 mg/24 h; normal, 5-10 mg/24 h), and urinary dehydroepiandrosterone. The basal tests were often insufficient to show the accumulation of the precursors (especially 17-hydroxyprogesterone) which are often given as evidence for an increase in ACTH stimulation. In studying the levels of the mineralocorticoids, there was shown to be an increased basal level of tetrahydrodeoxycorticosterone (patients, 142-317 microgram/24 h; normal, 60-80 microgram/24 h) which was raised by ACTH stimulation. These results, therefore, confirm the characteristic partial enzyme defect and give evidence for the heterogeneity of this syndrome. Based on the above observations, we believe it is appropriate to rename this condition adult adrenocortical 11 beta-hydroxylation defect rather than late-onset congenital adrenal hyperplasia.

Topics: 17-Ketosteroids; Adrenal Cortex; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Androgens; Androstenedione; Blood Pressure; Child; Female; Glucose Tolerance Test; Hirsutism; Humans; Menstruation; Mineralocorticoids; Steroid Hydroxylases; Steroids

In a prospective study, assays of plasma adrenocorticotrophic hormone (ACTH) were compared with established criteria to evaluate the determination's usefulness in monitoring the control of congenital adrenal hyperplasia (CAH). In 22 infants and children with 21-hydroxylase deficiency, the plasma ACTH value correctly identified the status of control in 51 of 73 (70%) patient visits. Plasma ACTH concentrations were significantly higher in patients whose conditions were out of control when compared with patients whose conditions were under control, although there was an overlap between the two groups. Plasma ACTH concentrations were significantly higher in patients with sodium-losing CAH than in patients with non-sodium-losing CAH. These findings support the concepts that patients with the sodium-losing condition have a more severe enzyme deficiency and that ACTH stimulation may be affected by sodium balance. Although plasma ACTH determinations are a useful adjunct in the long-term management of CAH, they cannot be relied on as the sole criterion of control.

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Child; Child, Preschool; Female; Fludrocortisone; Glucocorticoids; Humans; Hydroxyprogesterones; Infant; Infant, Newborn; Long-Term Care; Male; Natriuresis; Pregnanetriol

The effects of prednisone therapy and the withdrawal of prednisone for 3 days on hormonal relationships was investigated in 6 adolescent patients, age 10--19 years with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Prednisone continuously suppressed adrenal release of 17 alpha-hydroxyprogesterone (17-OHP) in 4 patients and adequately controlled 17-oxosteroid (17-OS) excretion in 5. Serum dehydroepiandrosterone sulfate (DS) concentrations were not elevated during or 3 days after withdrawal of medication. Growth hormone (GH) secretion was not suppressed by prednisone. Withdrawal of treatment was associated with a decrease in the follicle-stimulating hormone (FSH) to luteinizing hormone (LH) ratio in 5 patients and a rise in serum testosterone in 4. The clinical courses of these patients emphasize the difficulty in achieving optimum control.

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adult; Child; Dehydroepiandrosterone; Dehydroepiandrosterone Sulfate; Female; Follicle Stimulating Hormone; Growth Hormone; Humans; Hydrocortisone; Hydroxyprogesterones; Luteinizing Hormone; Male; Prednisone; Testosterone

We have studied plasma renin activity, the plasma aldosterone level and urinary metabolites of glucocorticoid precursors before and during a dexamethasone suppression test in three non-salt-losers with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, who had never been treated with glucocorticoid. Plasma renin activity, the plasma aldosterone level and urinary pregnanetriol excretion were found to be abnormally elevated before dexamethasone administration. After 7 days' dexamethasone administration, plasma renin activity still remained high above the normal level, while the plasma aldosterone level as well as urinary 17KS and pregnanetriol excretion were lowered to the normal ranges. Several possible mechanisms for this discordant suppression of plasma renin activity and aldosterone level were discussed and the presence of mineralocorticoid resistance, which is not related to ACTH dependent aldosterone antagonists, was suggested in the case of these patients.

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Aldosterone; Dexamethasone; Female; Humans; Male; Pregnanetriol; Renin

To determine whether a single morning plasma level of 17-hydroxyprogesterone (17OH-P), androstenedione, testosterone and progesterone reflected the degree of control of 21-hydroxylase congenital virilizing adrenal hyperplasia (CVAH) as indicated by 24-hour urinary 17-ketosteroid and pregnanetriol excretion, 142 simultaneous 24-hour urine and morning blood collections were made from 65 patients with CVAH. Patients were grouped into five categories on the basis of age, skeletal age, and sex. Paired blood and urinary data were analyzed. The results suggest that androstenedione is the most reliable indicator for all patient categories. Testosterone is an excellent indicator for children of both sexes and for adolescent and adult females. Levels of 17OH-P are difficult to interpret, as they can be several fold higher than the normal values when adrenal suppression appears adequate on the basis of urinary data. In general, progesterone is a poor indicator.

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adult; Age Factors; Androstenedione; Child; Child, Preschool; Circadian Rhythm; Female; Humans; Hydroxyprogesterones; Infant; Male; Pregnanetriol; Progesterone; Puberty; Sex Factors; Testosterone

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adult; Androstenedione; Child; Child, Preschool; Dehydroepiandrosterone; Female; Glucocorticoids; Humans; Male; Pregnanetriol; Testosterone

Serum 17alpha-hydroxyprogesterone (17 OH-P) was measured by a specific radioimmunoassay technique combined with thin-layer chromatography. Normal values for children are less than 1.1 microgram/1 (less than 3.3 nmol/l)--corresponding to values found in the literature. In congenital adrenal hyperplasia (CAH) values up to several hundred microgram/l are found. The values rise after ACTH stimulation and are suppressed by decadrone or cortisone treatment. The rise in 17 ketosteroids and pregnanetriol in untreated CAH is relatively smaller (15--25 fold). This clinical sensitivity of 17 OH-P is thus valuable for the diagnosis of CAH (21 hydroxylase deficiency). Furthermore it is easier to take a blood sample than to collect urine for 24 hours. The usefulness in therapeutic monitoring is being studied.

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adrenocorticotropic Hormone; Adult; Child; Child, Preschool; Chromatography, Thin Layer; Female; Humans; Hydroxyprogesterones; Infant; Male; Pregnanetriol; Radioimmunoassay; Reference Values

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adrenocorticotropic Hormone; Adult; Aldosterone; Angiotensin II; Blood Volume; Child; Child, Preschool; Female; Fludrocortisone; Humans; Hydroxyprogesterones; Male; Renin

The occurrence of a giant myelolipoma of the adrenal gland reported in a patient with congenital adrenal hyperplasia (21-hydroxylase deficiency). Associated significant findings include a massive proliferation of adrenocortical cells as an integral part of the myelolipoma and coincidental tumor of the interstitial cells of the testis. The clinical, radiologic, endocrinologic, and pathologic features of this case are correlated with a review of the literature. The additional myelolipomas are also reported here for the first time. Similar lesions have been induced experimentally in rats and provide further evidence suggesting a hyperplastic rather than a neoplastic nature for this complex lesion, at least in its earlier stages.

Topics: 17-Ketosteroids; Adrenal Cortex; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adult; Age Factors; Chronic Disease; Diagnosis, Differential; Female; Humans; Male; Microscopy, Electron; Middle Aged; Primary Myelofibrosis; Testicular Neoplasms

Topics: 17-Ketosteroids; Adrenal Cortex Hormones; Adrenal Hyperplasia, Congenital; Adrenal Insufficiency; Humans; Hypertension; Male; Middle Aged; Steroid Hydroxylases

Topics: 17-Ketosteroids; Adrenal Gland Diseases; Adrenal Hyperplasia, Congenital; Androgen Antagonists; Female; Hirsutism; Humans; Ovarian Diseases; Polycystic Ovary Syndrome; Testosterone

Therapy of congenital adrenal hyperplasia tranditionally is monitored by the amount of urinary 17-KS. However, 24-hour urine collections are difficult to obtain and are often unreliable. Measurement of the plasma concentrations of androgens, such as delta or T, would therefore be a more convenient way to determine the efficacy of treatment. Over a period of 2 to 24 months, 23 patients were periodically assessed by clinical examination, bone age, and determinations of plasma delta, plasma T, and 24-hour urinary 17-KS. Plasma T concentration correlated well with clinical control in females and in preadolescent males, but not in infant and pubertal males. By contrast, plasma delta concentration correlated well with clinical control in either sex, regardless of stage of puberty. The present study suggests that monitoring plasma delta concentration is useful in the long-term management of patients with CAH.

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adult; Age Factors; Androstenedione; Child; Cortisone; Female; Humans; Infant; Longitudinal Studies; Male; Prednisone; Sex Factors; Testosterone

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Child; Child, Preschool; Female; Glucocorticoids; Humans; Male; Tyrosine

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Androgens; Androstenedione; Child; Child, Preschool; Dehydroepiandrosterone; Female; Humans; Hydrocortisone; Infant; Male; Testosterone

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adrenocorticotropic Hormone; Adult; Aldosterone; Child; Child, Preschool; Female; Humans; Hydrocortisone; Hydroxyprogesterones; Infant; Male; Prednisolone; Pregnanetriol; Radioimmunoassay

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adult; Aging; Body Height; Child; Child, Preschool; Female; Follow-Up Studies; Glucocorticoids; Humans; Infant; Infant, Newborn; Male

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Corticosterone; Desoxycorticosterone; Humans; Hydrocortisone; Hydroxyprogesterones; Male; Middle Aged; Models, Biological; Pregnenolone; Progesterone; Steroid Hydroxylases; Steroids

Three otherwise healthy relatives of patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency and salt-wasting presented with clinical and/or biochemical findings, which exceeded those usually seen in heterozygotes: Two females (1 mother and 1 prepubertal sister of a patient with CAH) had marked hypertrichosis and hirsutism and excreted pregnanetriolone in their urine. The mother had increased basal plasma 17alpha-OH-progesterone (296 ng/100 ml), which increased to 7170 ng/100 ml after ACTH as in homozygotes of CAH. One adult male (brother of a patient with CAH) was clinically normal, but also excreted pregnanetriolone and had a high plasma 17alpha-OH-progesterone (1905 ng/100 ml), which increased further to 6352 ng/100 ml after ACTH. It is concluded that these subjects represent unusually marked heterozygotes of CAH rather than mild homozygotes. In females, this condition should be included in the differential diagnosis of idiopathic hirsutism, in males, it will pass unnoticed, unless relatives of patients with CAH are systematically tested.

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adult; Female; Heterozygote; Humans; Hydrocortisone; Hydroxyprogesterones; Male; Mixed Function Oxygenases; Pedigree; Pregnanes; Pregnanetriol; Testosterone

A retrospective study was made of 16 children with 21-hydroxylase-deficient congenital adrenal hyperplasia of the salt-losing variety, who were treated with fludrocortisone and prednisone and were in good health during the period under review. The height velocity of the children was subnormal, height achievement was poor, and their bone ages retarded. Urinary 17-oxosteroid and pregnanetriol excretion were used to monitor the therapy of the children and these data have been related to growth velocities. In spite of urinary steroid figures in excess of those published as desirable for monitoring therapy, the children failed to grow properly, probably as a result of glucocorticoid overdosage. Published urinary steroid criteria are considered too strict and in order to achieve them one would need to give unnecessarily high doses of steroid. Regular measurement of height velocity and skeletal maturation rate are better indicators of therapeutic control and should lead to more satisfactory growth and ultimate height.

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Body Height; Child; Child, Preschool; Female; Fludrocortisone; Humans; Infant; Male; Prednisone; Pregnanetriol; Retrospective Studies

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Cortex Neoplasms; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Child; Chromatography, Gas; Cushing Syndrome; Female; Humans; Male

A 17 year old female patient with hypertension, amenorrhoea and hirsutism was found to have subnormal levels of plasma and urinary cortisol, significant plasma levels of Reichstein's compound S and 21-deoxycortisol, high urinary levels of THS and pregnanetriolone as well as elevated levels of plasma and urinary testosterone. Treatment with 0.5 mg/day of dexamethasone or 25 mg/day cortisone reduced her hypertension and restored her menstrual cycles, but also resulted in the development of moon face, body striae and a gain in weight. Lower doses of cortisone were without effect. The deficient cortisol production coupled with the presence of unusual intermediates such as Reichstein's compound S and 21-deoxycortisol can be explained by a shift in the substrate specificity of 11beta-hydroxylase from C-21-hydroxylated substrates (i.e. compound S) to C-21-deoxy substrates (i.e. 17-hydroxyprogesterone).

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Amenorrhea; Corticosterone; Female; Hirsutism; Humans; Hydrocortisone; Hydroxyprogesterones; Hypertension; Pregnanetriol; Pregnenediones; Steroid Hydroxylases; Syndrome; Testosterone; Thyrotropin; Transcortin

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Diagnostic Errors; Female; Humans; Infant; Male; Syndrome

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Congenital Hypothyroidism; Female; Humans; Hypothyroidism; Infant

Six patients with congenital virilizing adrenal hyperplasia were evaluated on single- and multiple-dose prednisone schedules. Each of the treatment periods was for one month. Patients were evaluated by 24-hour urinary excretion of 17-ketosteroids and pregnanetriol, as well as 0900 plasma concentrations of 17-hydroxyprogesterone, progesterone, and testosterone. By the criteria of urinary excretion of KS and PNT appropriate for chronologic age, three of the six patients were adequately controlled on prednisone given once a day. Prednisone administered twice daily at 12-hourly intervals either in equally divided doses or with a larger dose in the evening, however, resulted in adequate suppression in all patients. Because of the marked diurnal variation of plasma 17-OHP, the time of day that the sample is drawn is critical. Afternoon samples are often misleadingly low. Plasma 17-OHP concentration may reflect escape from therapeutic control sooner than urinary KS and PNT excretion. There was no correlation between 17-OHP and P values. Plasma concentration of T was not a reliable indicator of good control, since T values were often at prepubertal levels when urinary KS and PNT were elevated.

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Child; Child, Preschool; Drug Administration Schedule; Female; Humans; Hydroxyprogesterones; Male; Prednisone; Pregnanetriol; Progesterone; Testosterone

The clinical symptomatology and diagnostic procedures of pseudohypoaldosteronism in an 8 days old male newborn infant are described. The course of the disease was initially characterized by failure to thrive, renal salt loss, hyponatremia and hyperkalemia. Daily treatment with 3 g sodium chloride improved symptoms. Hydrocortisone and desoxycortiscosteronacetate were without any effect. Urinary aldosterone excretion was increased 10 to 20 times of normal. 17 ketosteroid and pregananetriol were normal. The infant died of ulcerative enterocolitis at the age of 1 1/2 years. Beside the first description of the disease by Cheek et al. (1958) 13 further publications have been collected from the literature. Symptoms at the beginning, sex, serum electrolytes, aldosterone excretion, somatic development, observation period, treatment and duration of therapy are compared with the presented case report.

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Aldosterone; Diagnosis, Differential; Humans; Hydrocortisone; Infant; Infant, Newborn; Male; Pregnanetriol; Sodium Chloride

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adult; Child; Female; Follicle Stimulating Hormone; Humans; Hydrocortisone; Hydroxyprogesterones; Luteinizing Hormone; Testosterone

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Androsterone; Etiocholanolone; Female; Humans; Pregnancy; Pregnancy Complications

We have examined the suppression of urinary pregnanetriol and 17-ketosteroids during treatment with cortisol, cortisone, prednisone, and dexamethasone in eight patients with congenital adrenal hyperplasia. A large individual variation in response to each agent was observed. In some individuals, cortisone is less effective than its generally accepted potency would indicate. At equivalent glucocorticoid dosage, dexamethasone was twice as effective as the other steroids in suppressing urinary 17-ketosteroids and pregnanetriol. The potency of dexamethasone in suppressing adrenal function was 80 times that of cortisol, about twice its generally accepted potency as a glucocorticoid or anti-inflammatory agent.

Topics: 17-Ketosteroids; Adolescent; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adult; Child; Cortisone; Depression, Chemical; Dexamethasone; Female; Glucocorticoids; Humans; Hydrocortisone; Male; Prednisone; Pregnanetriol; Steroid Hydroxylases

A case of a 31-year-old female hermaphrodite with congenital adrenal hyperplasia is reported and some endocrinological studies are presented. After the administration of dexamethasone, the elevated levels of serum testosterone were suppressed, while the lower levels of serum luteinizing hormone and follicle stimulating hormone were elevated. Since the virilization was too developed to change the sex role, the patient remained as a male subject without cortisol replacement therapy and underwent a plastic operation to construct the penile urethra.

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Disorders of Sex Development; Female; Follicle Stimulating Hormone; Humans; Luteinizing Hormone; Male; Pituitary-Adrenal Function Tests; Radioimmunoassay; Testosterone; Urethra

Five cases of congenital adrenal hyperplasia due to C21-hydroxylase defect were treated with a combination of aminoglutethimide and prednisolone. In the third year of treatment the urinary levels of 17-oxosteroids increased above normal values while the total 17-hydroxy-corticosteroids were normally low. Specifically, urinary pregnanetriol was normal in 3 cases. To determine the reasons for this disparity the adrenal metabolism of cholesterol, as judged by the urinary steroid metabolites, was studied. Fractionation of urinary steroid metabolites was by thin-layer chromatography (TLC) followed by gas-liquid chromatography (GLC). The results indicate that aminoglutethimide inhibits steroidogenesis less than prednisolone; that a pathway from cholesterol via 17 alpha, 20 alpha-dihydroxycholesterol to dehydroepiandrosterone is likely to operate after long-term aminoglutethimide therapy; that 11 beta-hydroxylase, at least for pregnenes may be inhibited by aminoglutethimide and that the metabolic breakdown of testosterone may be delayed by this drug.

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Aminoglutethimide; Child; Child, Preschool; Cholesterol; Chromatography, Gas; Chromatography, Thin Layer; Female; Humans; Prednisolone; Pregnadienetriols; Steroid Hydroxylases; Time Factors

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Age Factors; Child; Child, Preschool; Chromatography, Gas; Female; Humans; Male

Serum concentrations of 17OH-progesterone were studied serially over 24 hours in 13 treated and untreated patients with the C21 hydroxylase form of congenital adrenal hyperplasia. The results were correlated with measurements of plasma renin activity, serum electrolytes, and urinary 17-ketosteroids and pregnanetriol. In 500 healthy subjects from birth to adult life, serum 17OH-pregesterone levels ranged from 5 to 315 ng/dl. In untreated CAH, serum 17OH-progesterone was markedly elevated (2,000 to 80,000 ng/dl). Treatment with cortisol (20 to 30 mg/m2/day in 3 doses) resulted in normal serum 17OH-progesterone levels in both non-salt-losing and salt-losing patients receiving adequate mineralocorticoid. Even slightly inadequate mineralocorticoid therapy (shown by high plasma renin activity with normal serum electrolytes) was associated with elevated 17OH-progesterone (to 65,000 ng/dl) in spite of usually effective doses of cortisol. Some patients showed isolated 17OH-progesterone elevations (usually early morning), a situation which requires only revision of the cortisol dosage schedule without an increase in total dosage. The data confirm the value of 17OH-progesterone assays in both the diagnosis and management of CAH. Taken together with determinations of plasma renin activity, serum 17OH-progesterone assays can permit more exact control of CAH without excessive doses of glucocorticoid.

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Child; Child, Preschool; Female; Fetal Blood; Humans; Hydrocortisone; Hydroxyprogesterones; Infant; Infant, Newborn; Male; Pregnanetriol; Radioimmunoassay; Renin; Sodium Chloride; Steroid Hydroxylases

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Cortex Function Tests; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Aldosterone; Dehydroepiandrosterone; Dexamethasone; Follicle Stimulating Hormone; Gynecomastia; Humans; Hydrocortisone; Infant; Luteinizing Hormone; Male; Penis; Prednisone; Steroid Hydroxylases; Testosterone

Fifteen years' experience with the adrenogenital syndrome at Duke University Medical Center is reviewed. Twenty-six patients were diagnosed before age 2. Of these, 20 had the salt-losing syndrome. The complications encountered and the results obtained in terms of growth, developemnt, and fertility are discussed. Delay in diagnosis and inappropriate gender assignment continue to be a problem.

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adult; Age Determination by Skeleton; Age Factors; Body Height; Child; Child, Preschool; Cortisone; Dexamethasone; Female; Fertility; Genitalia, Female; Humans; Karyotyping; Male; Menarche; Methylprednisolone; Pregnanetriol; Seizures; Sex Determination Analysis; Time Factors

Five new patients with postmenarchial onset of adrenal virilism related to 21-hydroxylase deficiency are presented. Diagnostic criteria are reviewed. Four pregnancies resulting in 3 term infants occurred after instigation of therapy. Eleven patients similar in clinical presentation are reviewed for comparison. Findings of value in distinguishing these two groups of patients are discussed.

Topics: 17-Ketosteroids; Adolescent; Adrenal Gland Diseases; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adult; Child; Dexamethasone; Female; Hirsutism; Humans; Hydroxysteroids; Menarche; Metabolism, Inborn Errors; Mixed Function Oxygenases; Prednisone; Pregnancy; Pregnanetriol; Time Factors; Virilism

To evaluate the usefulness of blood testosterone (T) in monitoring the effects of therapy in congenital virilizing adrenal hyperplasia due to 21- or 11- hydroxylation defect (CVAH), T levels were measured on 45 occasions in 13 patients with CVAH; 32 urinary 17-ketosteroid levels and 31 preganetriol values were available for comparison. Bone age levels, growth data, and medication are listed to help assess the clinical state of the patient at the time of each T determination. Blood T values were above normal for age and sex in untreated patients with CVAH and declined with glucocorticoid suppression. A blood T value of 20 ng/100 ml appeared to distinguish between well-controlled cases and those with inadequate steroid suppression. Serial measurement of blood T in girls and in prepubertal boys with CVAH provides assistance in evaluating chemical control of the disease, particularly when accurate 24-h urine collections cannot be obtained for 17-ketosteroid and pregnanetriol assessments.

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adult; Age Determination by Skeleton; Body Height; Child; Child, Preschool; Female; Glucocorticoids; Humans; Male; Pregnanetriol; Testosterone; Virilism

A case of adrenogenital syndrome due to 11beta-hydroxylase deficiency is described in a mother, 25 years of age, who had experienced a successful pregnancy 5 years previously. At that time no abnormality had been suspected and pregnancy was achieved without therapy. Subsequently the patient was examined because of secondary sterility. The menstrual cycles were anovulatory. Only slight virilization was observed and blood pressure was normal. Diagnosis was based on the observation of highly increased urinary excretion of 17-ketosteroids and 17-ketogenic steroids, with especially high excretion of tetrahydro-11-deoxycortisol. Following suppression with dexamethasone and adequate maintenance treatment, the patient conceived and had an uneventful pregnancy. This is apparently the first report of pregnancy in adrenogenital syndrome due to 11beta-hydroxylase deficiency.

Topics: 17-Ketosteroids; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adult; Androgens; Chromatography, Gas; Chromatography, Thin Layer; Circadian Rhythm; Corticosterone; Dexamethasone; Female; Humans; Hydrocortisone; Infertility, Female; Mixed Function Oxygenases; Pregnadienes; Pregnancy; Tetrahydrocortisol; Tetrazolium Salts

Twelve women with congenital adrenal hyperplasia are reported. Initial diagnoses were made at ages ranging from 12 to 32, with epiphyseal fusion complete in all patients. During 6 to 10 years of corticosteroid therapy there occurred substantial reduction of hypertrichosis, disappearance of temporal recession, and decrease in eroticism. In 11 patients menstrual bleeding occurred within 4 months. Urinary excretion of total gonadotropins remained unchanged; total estrogens decreased slightly. By the end of followup, 7 patients with a mean age of 17 years had regular menses, 6 were ovulating, and 1 had a pregnancy. The other 5 patients, who continued to have irregular, anovulatory menstrual cycles, had a mean age of 28 years. The findings suggest that when excessive androgenization continues for a considerable period of time after puberty (as judged by bone age) noncyclic functioning of the gonadotropic mechanism is rendered irreversible.

Topics: 17-Ketosteroids; Adolescent; Adrenal Cortex Hormones; Adrenal Hyperplasia, Congenital; Adult; Body Temperature; Breast; Child; Estrogens; Female; Gonadotropins; Humans; Hyperplasia; Hypotrichosis; Menstruation; Ovulation Detection; Pregnancy; Pregnanediol

Topics: 17-Ketosteroids; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Female; Hirsutism; Humans; Hydrocortisone; Lipid Metabolism, Inborn Errors; Middle Aged; Primary Myelofibrosis

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Androsterone; Chromatography, Gas; Computers; Dehydroepiandrosterone; Etiocholanolone; Female; Humans; Pregnanediol; Pregnanetriol

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Age Determination by Skeleton; Age Factors; Body Height; Bone Development; Child; Child, Preschool; Female; Fludrocortisone; Glucocorticoids; Growth; Humans; Hydrocortisone; Infant; Male; Prednisone; Pregnanetriol; Puberty; Sodium; Sodium Chloride

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Age Determination by Skeleton; Child; Child, Preschool; Estradiol; Female; Glucocorticoids; Growth; Humans; Hydroxyprogesterones; Infant; Infant, Newborn; Male; Pregnanetriol; Progesterone; Puberty; Radioimmunoassay; Testosterone

Topics: 17-Ketosteroids; Adrenal Cortex Hormones; Adrenal Hyperplasia, Congenital; Child; Child, Preschool; Chromatography, Gas; Desoxycorticosterone; Female; Humans; Hydrocortisone; Male; Mixed Function Oxygenases; Prednisolone; Prednisone; Pregnanediol; Pregnanetriol

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Androgens; Biochemical Phenomena; Biochemistry; Female; Gonadal Steroid Hormones; Humans; Metabolism, Inborn Errors; Mixed Function Oxygenases; Prednisolone; Pregnenolone; Steroids

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Child; Child, Preschool; Female; Humans; Male; Mixed Function Oxygenases; Virilism

Topics: 17-Ketosteroids; Adolescent; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adult; Cholesterol; Cushing Syndrome; Female; Humans; Hypercholesterolemia; Middle Aged

Topics: 17-Ketosteroids; Adolescent; Adrenal Cortex Hormones; Adrenal Hyperplasia, Congenital; Adult; Age Factors; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Methods

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Child; Femoral Fractures; Humans; Male; Osteogenesis; Osteogenesis Imperfecta; Recurrence; Rib Fractures

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Age Factors; Child; Female; Humans

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adult; Child; Chromatography, Gas; Disorders of Sex Development; Female; Humans; Hydrocortisone; Infant; Male; Mixed Function Oxygenases; Pregnanetriol; Radioimmunoassay; Tetrahydrocortisol

Topics: 17-Ketosteroids; Adrenal Cortex Hormones; Adrenal Hyperplasia, Congenital; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Age Factors; Amniocentesis; Amniotic Fluid; Erythroblastosis, Fetal; Female; Gestational Age; Humans; Male; Mixed Function Oxygenases; Pregnancy; Pregnanetriol; Prenatal Diagnosis; Sex Factors; Sodium; Testosterone

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adult; Child; Child, Preschool; Estradiol; Estriol; Estrogens; Estrone; Female; Humans; Male; Pregnanetriol

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Cryptorchidism; Diagnosis, Differential; Disorders of Sex Development; Female; Humans; Infant; Infant Nutrition Disorders; Potassium; Sex Chromatin; Sodium; Vomiting

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adult; Cushing Syndrome; Dexamethasone; Female; Humans; Pregnancy; Pregnancy Complications

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenal Insufficiency; Adrenocorticotropic Hormone; Body Weight; Bone Development; Child; Child, Preschool; Cushing Syndrome; Desoxycorticosterone; Diagnosis, Differential; Diagnostic Errors; Fludrocortisone; Glucocorticoids; Growth Disorders; Growth Hormone; Humans; Hydrocortisone; Infant; Infant, Newborn; Insulin; Male; Methylprednisolone; Metyrapone; Mineralocorticoids; Pituitary-Adrenal Function Tests

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Androgen Antagonists; Body Height; Child; Child, Preschool; Cyproterone; Follicle Stimulating Hormone; Gonadotropins, Pituitary; Growth Hormone; Humans; Luteinizing Hormone; Pregnadienes; Puberty, Precocious; Testosterone

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Biopsy; Chorionic Gonadotropin; Corpus Luteum; Dexamethasone; Dose-Response Relationship, Drug; Female; Humans; Infertility, Female; Injections, Intramuscular; Ovarian Diseases; Ovary; Ovulation; Pregnanediol; Pregnanetriol

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Androstenedione; Androsterone; Estrogens; Feminization; Gynecomastia; Humans; Hydrocortisone; Male; Pituitary-Adrenal Function Tests; Pregnanetriol; Sex Chromatin; Spermatogenesis; Testis; Testosterone

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Child; Chorionic Gonadotropin; Dexamethasone; Ethinyl Estradiol; Humans; Male; Medroxyprogesterone; Norethindrone; Prednisone; Pregnanetriol; Psychosexual Development; Puberty, Precocious; Testosterone

Topics: 17-Ketosteroids; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Biological Assay; Child, Preschool; Cortisone; Female; Humans; Hydroxyprogesterones; Infant; Infant, Newborn; Male; Methods; Mixed Function Oxygenases; Pregnanetriol; Protein Binding

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adult; Age Factors; Aldosterone; Body Height; Glucocorticoids; Humans; Hydrocortisone; Male; Puberty, Precocious; Testicular Neoplasms; Testosterone

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Child; Child, Preschool; Diagnosis, Differential; Disorders of Sex Development; Female; Humans; Infant; Infant, Newborn; Male; Prednisone; Pregnancy; Pregnanetriol; Prognosis; Virilism

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adrenocorticotropic Hormone; Adult; Aldosterone; Body Weight; Female; Humans; Hydrocortisone; Male; Middle Aged; Natriuresis; Potassium; Pregnanetriol; Radioimmunoassay; Secretory Rate; Stimulation, Chemical; Tritium

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Autistic Disorder; Cells, Cultured; Child; Child, Preschool; Humans; Karyotyping; Lymphocytes; Male; Osteosarcoma; Pregnanetriol; Sex Chromosome Aberrations

Topics: 17-Ketosteroids; Adolescent; Adrenal Cortex Hormones; Adrenal Hyperplasia, Congenital; Adult; Aldosterone; Carbon Isotopes; Child; Child, Preschool; Chromatography, Paper; Diet, Sodium-Restricted; Female; Humans; Hyperplasia; Male; Potassium; Pregnanetriol; Radioisotope Dilution Technique; Secretory Rate; Sodium; Spectrophotometry; Tritium

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Amniocentesis; Amniotic Fluid; Female; Fetal Diseases; Humans; Methods; Pregnancy; Pregnanetriol

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adult; Colorimetry; Cushing Syndrome; Disorders of Sex Development; Evaluation Studies as Topic; Female; Humans; Male; Mathematics; Methods; Photochemistry; Polycystic Ovary Syndrome; Thyroidectomy

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Dexamethasone; Diseases in Twins; Female; Genitalia, Female; Humans; Hydrocortisone; Infant, Newborn; Testosterone

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Child, Preschool; Cytogenetics; Humans; Hydroxysteroid Dehydrogenases; Karyotyping; Male

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Child, Preschool; Cortisone; Disorders of Sex Development; Female; Humans

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Age Factors; Aged; Diabetes Complications; Female; Glucose Tolerance Test; Humans; Prednisone; Pregnanetriol

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Aldosterone; Blood Pressure; Child; Clitoris; Female; Humans; Hyperplasia; Hyponatremia; Infant, Newborn; Male; Metabolism, Inborn Errors; Pregnanetriol; Renin; Sodium; Sodium Chloride; Steroid Hydroxylases; Water-Electrolyte Balance

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Child; Female; Humans; Hyperplasia; Infant, Newborn; Karyotyping; Sex Chromatin; Sex Chromosomes

Topics: 17-Ketosteroids; Adenoma; Adolescent; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adrenal Insufficiency; Adult; Aged; Alcohols; Amenorrhea; Androsterone; Carcinoma; Child, Preschool; Chromatography, Gas; Cushing Syndrome; Dehydroepiandrosterone; Etiocholanolone; Female; Genital Diseases, Male; Hirsutism; Humans; Hyperplasia; Hyperthyroidism; Hypospadias; Infant; Infertility, Male; Klinefelter Syndrome; Lactation Disorders; Male; Middle Aged; Polycystic Ovary Syndrome; Pregnancy; Pregnanetriol

Topics: 17-alpha-Hydroxypregnenolone; 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Chromatography, Gas; Female; Humans; Hydroxysteroid Dehydrogenases; Hyperplasia; Infant; Metabolism, Inborn Errors; Mixed Function Oxygenases; Pregnanediol; Pregnanetriol; Secretory Rate

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Child, Preschool; Humans; Hydroxysteroid Dehydrogenases; Male; Metabolism, Inborn Errors; Mixed Function Oxygenases; Pregnanetriol

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adult; Aged; Chemistry, Clinical; Child, Preschool; Colorimetry; Female; Humans; Hydrolysis; Male; Methods; Middle Aged

Topics: 17-Ketosteroids; Adolescent; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adult; Aged; Child; Child, Preschool; Chromatography, Gas; Chromatography, Thin Layer; Cushing Syndrome; Female; Humans; Liver Diseases; Male; Methods; Middle Aged; Thyroid Diseases; Turner Syndrome

Topics: 17-Ketosteroids; Abortion, Habitual; Adolescent; Adrenal Hyperplasia, Congenital; Adult; Chemistry, Clinical; Chromatography, Gas; Clinical Laboratory Techniques; Drug Stability; Estrogens; Evaluation Studies as Topic; Female; Humans; Hydrogen-Ion Concentration; Hydrolases; Hydrolysis; Male; Methods; Methylation; Polycystic Ovary Syndrome; Pregnancy; Pregnanediol; Silicon; Steroids

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Estrogens; Humans; Infertility, Male; Male; Middle Aged; Pregnanetriol; Spermatogenesis

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Age Factors; Child; Child, Preschool; Dexamethasone; Female; Follow-Up Studies; Humans; Male; Mixed Function Oxygenases; Prednisolone; Puberty, Precocious; Virilism

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Cortex Hormones; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Androsterone; Chromatography, Gas; Cushing Syndrome; Etiocholanolone; Humans; Hydrocortisone; Hyperthyroidism; Male; Pregnanetriol

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Androstanes; Body Height; Body Surface Area; Body Weight; Chromatography, Gas; Creatinine; Female; Heterozygote; Humans; Male; Metabolism, Inborn Errors; Mixed Function Oxygenases; Pregnanediol; Pregnanetriol; Steroids; Urine

Topics: 17-Ketosteroids; Adrenal Cortex Hormones; Adrenal Gland Neoplasms; Adrenal Glands; Adrenal Hyperplasia, Congenital; Androgens; Carcinoma; Child, Preschool; Dichlorodiphenyldichloroethane; Female; Hirsutism; Humans; Liver Neoplasms; Lung Neoplasms; Neoplasm Metastasis; Neoplasm Recurrence, Local; Virilism

Topics: 17-Ketosteroids; Adrenal Gland Neoplasms; Adrenal Glands; Adrenal Hyperplasia, Congenital; Dehydroepiandrosterone; Female; Humans; Middle Aged; Pregnanetriol; Puberty, Precocious; Virilism

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Child; Child, Preschool; Corticosterone; Desoxycorticosterone; Dexamethasone; Diet; Female; Humans; Hydrocortisone; Hyperplasia; Hypertension; Male; Metabolism, Inborn Errors; Metyrapone; Mixed Function Oxygenases; Potassium; Pregnanetriol; Secretory Rate; Sodium

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Disorders of Sex Development; Female; Fibroblasts; Glucocorticoids; Gonadotropins, Pituitary; Humans; Hydrocortisone; Hyperplasia; Karyotyping; Metabolism, Inborn Errors; Middle Aged; Mosaicism; Mouth Mucosa; Pregnanetriol; Sex Chromosome Aberrations; Skin

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adrenocorticotropic Hormone; Child; Dehydroepiandrosterone; Female; Humans; Hydrocortisone; Hydroxysteroid Dehydrogenases; Metabolism, Inborn Errors; Pituitary-Adrenal Function Tests; Pregnanes; Pregnanetriol; Steroids

Topics: 17-Ketosteroids; Adrenal Gland Diseases; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Androgens; Chromatography, Gas; Collagen Diseases; Cushing Syndrome; Dehydroepiandrosterone; Dexamethasone; Etiocholanolone; Female; Glucuronidase; Humans; Hyperthyroidism; Hypogonadism; Liver Cirrhosis; Male; Metyrapone; Pregnanes; Sterols

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adenoma; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Cushing Syndrome; Dexamethasone; Diagnosis, Differential; Female; Gonadotropins, Pituitary; Humans; Menstruation Disturbances; Norethynodrel; Ovarian Neoplasms; Ovary; Pituitary-Adrenal Function Tests; Polycystic Ovary Syndrome

Topics: 17-Ketosteroids; Adolescent; Adrenal Gland Diseases; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Androgens; Androstanes; Female; Glucocorticoids; Humans; Hydrocortisone; Hyperplasia; Testosterone

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Administration, Oral; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adult; Depression, Chemical; Dexamethasone; Fasting; Female; Fluorometry; Humans; Hydrocortisone; Hydrogen-Ion Concentration; Male; Metabolism; Pregnanes; Time Factors

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Androgens; Diagnosis, Differential; Female; Humans; Hypertrophy; Leiomyoma; Middle Aged; Neoplasms, Multiple Primary; Ovary; Uterine Hemorrhage; Uterine Neoplasms; Uterus

Topics: 17-Ketosteroids; Acetates; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Androgens; Androstanes; Butyrates; Child; Chromatography, Gas; Female; Formates; Humans; Male; Middle Aged; Propionates; Sterols; Valerates

Topics: 17-Ketosteroids; Adrenal Cortex Hormones; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adult; Amenorrhea; Chromatography, Thin Layer; Female; Glucocorticoids; Humans; Hydroxysteroid Dehydrogenases; Ketones; Menstruation Disturbances; Metabolism, Inborn Errors; Mixed Function Oxygenases; Pregnanediol; Pregnanetriol; Progesterone

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Gland Diseases; Adrenal Hyperplasia, Congenital; Cesarean Section; Clitoris; Corticosterone; Dexamethasone; Female; Humans; Hydrocortisone; Pregnancy; Pregnancy Complications; Pregnanediol; Pregnanetriol

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adult; Age Factors; Body Height; Child; Child, Preschool; Female; Humans; Male; Menarche; Middle Aged

Topics: 17-Ketosteroids; Adrenal Cortex Hormones; Adrenal Gland Diseases; Adrenal Hyperplasia, Congenital; Androgens; Child; Female; Humans; Hydrocortisone; Hyperplasia; Hyponatremia; Infant; Male; Metabolism, Inborn Errors; Progestins

Topics: 17-Ketosteroids; Adrenal Gland Diseases; Adrenal Hyperplasia, Congenital; Child; Female; Glucocorticoids; Humans; Infant; Infant, Newborn; Male; Potassium; Sodium; Virilism

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Estriol; Female; Fetal Diseases; Gestational Age; Humans; Infant, Newborn; Pregnancy; Pregnanetriol

Topics: 17-Ketosteroids; Abortion, Habitual; Adrenal Hyperplasia, Congenital; Dehydroepiandrosterone; Female; Humans; Methods; Pituitary-Adrenal Function Tests; Pregnancy

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adenoma; Adolescent; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adult; Androgens; Androstanes; Clitoris; Dehydroepiandrosterone; Female; Humans; Hypertrophy; Testosterone; Virilism

Topics: 17-Ketosteroids; Addison Disease; Adrenal Cortex Hormones; Adrenal Gland Neoplasms; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adrenal Insufficiency; Adrenocortical Hyperfunction; Cholesterol; Cushing Syndrome; Deficiency Diseases; Dehydroepiandrosterone; Female; Menstruation Disturbances; Mixed Function Oxygenases; Virilism

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adult; Chemistry, Clinical; Chromatography, Gas; Cushing Syndrome; Dehydroepiandrosterone; Diagnosis, Differential; Female; Glucocorticoids; Hirsutism; Humans; Pregnanediol; Pregnanetriol

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Carbon Isotopes; Estradiol; Estriol; Estrogens; Estrone; Female; Humans; Polycystic Ovary Syndrome; Stimulation, Chemical

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adsorption; Adult; Chemistry, Clinical; Child; Child, Preschool; Cushing Syndrome; Disorders of Sex Development; Ethisterone; Female; Glucuronidase; Hirsutism; Humans; Infant; Magnesium; Methods; Pituitary-Adrenal Function Tests; Polycystic Ovary Syndrome; Pregnanetriol; Puberty, Precocious; Silicon Dioxide; Tetrazolium Salts

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Autopsy; Disorders of Sex Development; Female; Humans; Infant; Infant, Newborn; Male; Organ Size; Prednisone; Prostate; Salts; Virilism

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenal Rest Tumor; Adrenocorticotropic Hormone; Aldosterone; Chemistry, Clinical; Child; Desoxycorticosterone; Etiocholanolone; Female; Humans; Hyperaldosteronism; Hyperplasia; Hypertension; Metabolism, Inborn Errors; Mixed Function Oxygenases; Ovarian Neoplasms; Pregnanetriol

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adult; Estrogens; Female; Gonadotropins; Humans; Metyrapone; Mixed Function Oxygenases; Pregnancy; Pregnanediol; Pregnanetriol; Testosterone; Triamcinolone; Virilism

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Amniotic Fluid; Chromatography; Female; Fetal Diseases; Gestational Age; Humans; Hyperplasia; Infant, Newborn; Pregnancy; Pregnanetriol; Tritium

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adult; Child; Chromatography; Female; Humans; Male; Photometry; Pregnanes; Pregnanetriol; Triamcinolone

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Child, Preschool; Female; Humans; Pregnanetriol; Sex Chromosomes

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adult; Child; Child, Preschool; Female; Humans; Infant; Karyotyping; Male; Mixed Function Oxygenases

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Chorionic Gonadotropin; Depression, Chemical; Dexamethasone; Diethylstilbestrol; Estrogens; Feedback; Female; Humans; Hypothalamo-Hypophyseal System; Polycystic Ovary Syndrome; Stimulation, Chemical

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Electrocardiography; Humans; Hyperkalemia; Infant, Newborn; Infant, Newborn, Diseases; Male; Pregnanetriol; Tachycardia

A case report of stimulated congenital adrenal hyperplasia in a newborn male following a medroxyprogesterone-treated pregnancy is presented. Because of intermittent vaginal spotting, the 26-year-old multiparous mother was administered 10 mg medroxyprogesterone acetate daily from Week 20 to Week 32 of gestation. At birth the child displayed early symptoms of hyperglycemia and idiopathic hyperbilirubinemia. At 17 days of age genital hyperpigmentation and penile enlargement were noted and tests revealed hypochloremic metabolic acidosis with hyponatremia. Urinary androgens were high but glucocoritcoids and pregnanetriol were normal. Desoxycorticosterone acetate supplemental salt were administered. After 28 days of age the infant developed normally without hypoglycemia or hyponatremia and the hyperpigmentation and penile enlargement disappeared. It is speculated that the infant could have undergone temporary underproduction of gluco-and mineralocorticoid" and overproduction of androgens that was induced by the mother's medroxyprogesterone treatment. Though the evidence for such a relationship in this case in not conclusive, further study should be conducted.

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Diagnosis, Differential; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Maternal-Fetal Exchange; Medroxyprogesterone; Pregnancy; Pregnancy Complications; Pregnanetriol

Topics: 17-Ketosteroids; Adrenal Cortex Hormones; Adrenal Hyperplasia, Congenital; Female; Humans; Hypertension; Male; Mixed Function Oxygenases; Oxidoreductases; Sodium Chloride

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Androgens; Androstanes; Child, Preschool; Female; Humans; Hyperplasia; Mixed Function Oxygenases; Pregnanetriol; Testosterone

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Androsterone; Cushing Syndrome; Diagnosis, Differential; Female; Hirsutism; Humans; Polycystic Ovary Syndrome; Pregnanetriol

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Humans; Male; Mixed Function Oxygenases

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Chemistry, Clinical; Child; Child, Preschool; Chromatography, Paper; Clitoris; Cushing Syndrome; Female; Hirsutism; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Methods; Mixed Function Oxygenases; Pituitary-Adrenal Function Tests; Pregnanetriol; Sex Chromosome Aberrations; Urogenital Abnormalities

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Acne Vulgaris; Adenoma; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Carcinoma; Child; Child, Preschool; Dehydroepiandrosterone; Female; Hirsutism; Humans; Infant; Lung Neoplasms; Male; Neoplasm Metastasis; Radiography; Virilism

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Chiari-Frommel Syndrome; Chromatography; Dehydroepiandrosterone; Diagnosis, Differential; Female; Hirsutism; Humans; Polycystic Ovary Syndrome; Pregnancy

Topics: 17-Ketosteroids; Adenoma; Adolescent; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adult; Androsterone; Chemistry, Clinical; Chromatography, Paper; Dehydroepiandrosterone; Diagnosis, Differential; Etiocholanolone; Hirsutism; Humans; Hydrocortisone; Hydroxysteroid Dehydrogenases; Hyperplasia; Metabolism, Inborn Errors; Middle Aged

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Desoxycorticosterone; Disorders of Sex Development; Humans; Hydrocortisone; Hydroxysteroid Dehydrogenases; Hypokalemia; Hyponatremia; Infant; Male; Metabolism, Inborn Errors; Mixed Function Oxygenases; Pregnanediol; Pregnanetriol; Pregnenolone; Secretory Rate; Urine; Water-Electrolyte Balance

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Age Factors; Chromatography, Paper; Dexamethasone; Female; Humans; Hydrocortisone; Hyperplasia; Metabolism, Inborn Errors; Middle Aged; Mixed Function Oxygenases; Pituitary Function Tests; Secretory Rate; Virilism

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adrenocorticotropic Hormone; Adult; Carbon Isotopes; Chemistry, Clinical; Chromatography, Paper; Crystallization; Female; Humans; Hyperplasia; Ovarian Cysts; Polycystic Ovary Syndrome; Progesterone

Topics: 17-Ketosteroids; Addison Disease; Adrenal Hyperplasia, Congenital; Age Determination by Skeleton; Body Height; Child; Child, Preschool; Female; Fluprednisolone; Growth; Humans; Hydrocortisone; Infant; Male; Methylprednisolone

Topics: 17-Ketosteroids; Adolescent; Adrenal Gland Neoplasms; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adult; Androgens; Child; Child, Preschool; Dexamethasone; Female; Humans

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Breast Neoplasms; Child; Chromatography, Gas; Cushing Syndrome; Etiocholanolone; Female; Humans; Hypopituitarism; Male; Methods; Pheochromocytoma; Polycystic Ovary Syndrome; Pregnanes; Statistics as Topic; Steroids

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Aldosterone; Carbon Dioxide; Child; Child, Preschool; Chlorine; Desoxycorticosterone; Female; Humans; Hypertension; Infant, Newborn; Male; Natriuresis; Potassium; Prednisolone; Renin; Sodium; Sodium Chloride; Virilism

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Aldosterone; Child; Child, Preschool; Dexamethasone; Diet, Sodium-Restricted; Female; Humans; Infant; Male; Natriuresis; Renin; Secretory Rate; Sodium

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Carbon Isotopes; Chemistry, Clinical; Child, Preschool; Chromatography, Gas; Chromatography, Thin Layer; Humans; Hydroxyprogesterones; Hyperplasia; Male; Metabolic Clearance Rate; Pregnanetriol; Progesterone; Tritium

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Chemistry Techniques, Analytical; Humans; Methods; Metyrapone; Pituitary-Adrenal Function Tests; Solvents

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Biochemical Phenomena; Biochemistry; Dexamethasone; Female; Humans; Ovulation; Pituitary-Adrenal Function Tests; Polycystic Ovary Syndrome; Pregnanediol; Virilism

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adult; Child; Chromatography, Paper; Cushing Syndrome; Female; Glucuronidase; Humans; Hydroxysteroid Dehydrogenases; Male; Methods; Middle Aged; Pregnanetriol; Pseudomonas

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Acromegaly; Addison Disease; Adolescent; Adrenal Cortex Hormones; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adult; Anorexia Nervosa; Child; Child, Preschool; Chromatography; Cushing Syndrome; Disorders of Sex Development; Endocrine System Diseases; Female; Humans; Hydrocortisone; Hyperaldosteronism; Hyperthyroidism; Hypertrichosis; Hypopituitarism; Male; Middle Aged; Myxedema; Obesity; Pheochromocytoma; Pregnancy; Spectrophotometry

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Child; Diagnosis, Differential; Disorders of Sex Development; Embryo, Mammalian; Female; Gonadal Steroid Hormones; Humans; Mosaicism; Mullerian Ducts; Pregnancy; Sex Chromosomes; Urography

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Age Factors; Child; Child, Preschool; Chorionic Gonadotropin; Chromatography, Thin Layer; Female; Fluorometry; Humans; Hypogonadism; Infant; Infant, Newborn; Male; Methods; Sex Factors; Testosterone

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Chromatography; Eclampsia; Female; Humans; Male; Phenols; Pregnancy; Pregnanes; Steroids

Topics: 17-Ketosteroids; Abortion, Spontaneous; Adolescent; Adrenal Hyperplasia, Congenital; Age Factors; Androsterone; Dexamethasone; Female; Gestational Age; Hirsutism; Humans; Marriage; Menstruation Disturbances; Pregnancy; Pregnancy Complications

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adult; Cushing Syndrome; Diagnosis, Differential; Glucocorticoids; Humans; Hyperaldosteronism; Middle Aged

Topics: 17-Ketosteroids; Adrenal Cortex Hormones; Adrenal Hyperplasia, Congenital; Alkaline Phosphatase; Body Height; Bone Development; Child, Preschool; Cholesterol; Estrogens; Humans; Male

Topics: 17-Ketosteroids; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Child, Preschool; Electrocardiography; Female; Humans; Infant, Newborn; Male

Topics: 17-Ketosteroids; Adolescent; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adult; Child, Preschool; Cushing Syndrome; Endocrine Glands; Female; Genital Neoplasms, Female; Gonadal Steroid Hormones; Hirsutism; Humans; Male; Middle Aged; Pituitary-Adrenal Function Tests; Polycystic Ovary Syndrome; Testosterone; Virilism

Topics: 17-Ketosteroids; Adrenal Cortex Hormones; Adrenal Gland Diseases; Adrenal Hyperplasia, Congenital; Estrogens; Female; Hirsutism; Humans; Ovarian Diseases; Testosterone

Topics: 17-alpha-Hydroxypregnenolone; 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adult; Child; Child, Preschool; Estrogens; Female; Gonadotropins; Humans; Hydroxyprogesterones; Hyperplasia; Male; Pregnanetriol; Virilism

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Chlormadinone Acetate; Chromatography; Diagnosis, Differential; Ethinyl Estradiol; Female; Hirsutism; Humans

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Androsterone; Chromatography, Gas; Cushing Syndrome; Dehydroepiandrosterone; Disorders of Sex Development; Etiocholanolone; Female; Hirsutism; Humans; Klinefelter Syndrome; Male; Polycystic Ovary Syndrome; Pregnanediol; Pregnanetriol; Testicular Neoplasms; Turner Syndrome

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Androgens; Androsterone; Child; Child, Preschool; Dehydroepiandrosterone; Dexamethasone; Etiocholanolone; Female; Humans; Male; Puberty, Precocious; Steroids; Testosterone

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Cushing Syndrome; Female; Hirsutism; Humans; Hypogonadism; Male; Metyrapone; Polycystic Ovary Syndrome; Prednisolone; Testosterone

Topics: 17-Ketosteroids; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Ovarian Neoplasms; Sertoli-Leydig Cell Tumor; Testosterone; Virilism

Topics: 17-Ketosteroids; Adenoma; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adult; Child; Chromatography, Paper; Dehydroepiandrosterone; Dexamethasone; Female; Hirsutism; Humans; Hydroxysteroid Dehydrogenases; Mesenchymoma; Metabolism, Inborn Errors; Puberty, Precocious; Secretory Rate

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adult; Androgens; Chromatography; Cortisone; Dehydroepiandrosterone; Female; Hirsutism; Humans; Hydroxysteroid Dehydrogenases; Hyperplasia; Metabolism, Inborn Errors

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenal Insufficiency; Adult; Androgens; Child; Culdoscopy; Diagnosis, Differential; Disorders of Sex Development; Female; Gonadotropins; Humans; Infant; Infant, Newborn; Laparotomy; Male; Maternal-Fetal Exchange; Pregnancy; Sex Chromatin; Sex Determination Analysis; Turner Syndrome

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Disorders of Sex Development; Female; Humans; Hypospadias; Infant; Male

Topics: 17-Ketosteroids; Adenoma; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adrenalectomy; Adrenocortical Hyperfunction; Adult; Carcinoma; Child; Child, Preschool; Cushing Syndrome; Female; Humans; Hyperaldosteronism; Hypertension; Intestinal Polyps; Male; Pheochromocytoma

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Glands; Adrenal Hyperplasia, Congenital; Estrogens; Female; Hormones, Ectopic; Humans; Ovarian Neoplasms

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Cortex Hormones; Adrenal Hyperplasia, Congenital; Asthma; Bronchitis; Child; Chronic Disease; Colitis, Ulcerative; Emphysema; Female; Humans; Lupus Erythematosus, Discoid; Male; Methylprednisolone; Nephrosis; Prednisone; Pregnanes; Triamcinolone

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Child, Preschool; Female; Humans; Infant; Pregnanetriol

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adult; Aldosterone; Angiotensin II; Child; Dexamethasone; Estrogens; Female; Gonadotropins; Humans; Hydrocortisone; Male; Metyrapone; Pregnanediol; Pregnanetriol; Sodium; Testosterone; Water-Electrolyte Balance

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Addison Disease; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adult; Aged; Female; Humans; Hypothyroidism; Male; Middle Aged; Obesity; Pituitary Diseases; Pituitary-Adrenal Function Tests; Potassium; Sodium; Turner Syndrome

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Child; Child, Preschool; Cortisone; Electrolytes; Female; Humans; Hydrocortisone; Hyperkalemia; Hyponatremia; Infant; Infant, Newborn; Male; Mineralocorticoids; Mixed Function Oxygenases; Potassium; Sodium; Virilism

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenalectomy; Adrenocorticotropic Hormone; Adult; Aged; Child; Child, Preschool; Endocrine System Diseases; Female; Humans; Hypertension; Liver Cirrhosis; Male; Metyrapone; Middle Aged; Paramethasone; Pregnanetriol; Triparanol

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Child; Child, Preschool; Clitoris; Disorders of Sex Development; Female; Humans; Hypertrophy; Infant; Laparotomy; Postoperative Complications; Vulva; Water-Electrolyte Balance

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Child; Child, Preschool; Cushing Syndrome; Female; Humans; Male; Puberty, Precocious

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Pregnanetriol; Sodium Chloride

Topics: 17-Ketosteroids; Adolescent; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adult; Child; Disorders of Sex Development; Female; Humans; Male; Middle Aged; Virilism

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Child; Disorders of Sex Development; Estrogens; Humans; Karyotyping; Male; Mosaicism; Sex Chromatin; Sex Chromosome Aberrations; Sex Determination Analysis

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Body Height; Child; Chromatography, Paper; Electroencephalography; Female; Growth; Hair; Humans; Pregnanetriol; Puberty, Precocious; Testosterone

Topics: 17-Ketosteroids; Addison Disease; Adrenal Gland Diseases; Adrenal Glands; Adrenal Hyperplasia, Congenital; Female; Humans; Hypopituitarism; Male; Pituitary-Adrenal Function Tests

Topics: 17-Ketosteroids; Adolescent; Adrenal Gland Diseases; Adrenal Hyperplasia, Congenital; Amenorrhea; Androgen-Insensitivity Syndrome; Disorders of Sex Development; Estrogens; Female; Gonadotropins, Pituitary; Humans; Hypogonadism; Ovarian Diseases; Turner Syndrome

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Chemical Fractionation; Chromatography; Dose Fractionation, Radiation; Humans; Urine

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Acne Vulgaris; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adult; Amenorrhea; Brain; Diagnosis; Female; Hirsutism; Humans; Hypertension; Metabolic Diseases; Mixed Function Oxygenases; Obesity; Urine; Virilism

Topics: 17-Ketosteroids; Adolescent; Adrenal Gland Diseases; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Child; Chromatography; Humans; Hyperplasia; Infant; Metabolism; Urine

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Amniotic Fluid; Female; Fetal Diseases; Humans; Infant, Newborn; Pregnancy; Pregnanetriol

Topics: 17-Ketosteroids; Acromegaly; Addison Disease; Adenoma; Adolescent; Adrenal Hyperplasia, Congenital; Adult; Blood; Child; Chromatography, Gas; Cushing Syndrome; Female; Glucuronates; Hirsutism; Humans; Hypogonadism; Klinefelter Syndrome; Male; Middle Aged; Polycystic Ovary Syndrome; Testosterone; Urine

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adult; Child; Child, Preschool; Dexamethasone; Female; Follicle Stimulating Hormone; Humans; In Vitro Techniques; Infant; Male; Metyrapone; Progestins; Urine

Topics: 17-Ketosteroids; Adolescent; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adult; Blood; Estradiol; Estrogens; Estrone; Eunuchism; Female; Humans; Male; Middle Aged; Subcellular Fractions; Testicular Diseases; Testosterone; Urine

Topics: 17-Ketosteroids; Adrenal Cortex Hormones; Adrenal Gland Diseases; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adrenalectomy; Adult; Breast Neoplasms; Child, Preschool; Cortisone; Cushing Syndrome; Disorders of Sex Development; Female; Humans; Hyperaldosteronism; Infant; Male; Pheochromocytoma; Prednisolone; Virilism

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Child; Child, Preschool; Female; Humans; Male; Middle Aged; Urine

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Child; Child, Preschool; Female; Humans; Hydrocortisone; Infant; Infant, Newborn; Male; Pregnanetriol

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Aldosterone; Child; Child, Preschool; Desoxycorticosterone; Humans; Leydig Cell Tumor; Male; Puberty, Precocious; Testicular Neoplasms; Testosterone; Urine

Topics: 17-Ketosteroids; Adrenal Cortex; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Anxiety; Cushing Syndrome; Diagnosis, Differential; Hypertension; Liver Neoplasms; Neoplasm Metastasis; Nephrectomy; Pathology; Urine; Urography

Korsakoff's syndrome of obscure etiology was observed in a 34-year-old single woman with an 11-year history of hirsutism and mood swings, and previous hospitalizations for mania three years ago and depression 11 years ago.Recently the virilism had intensified with increased muscularity and coarsening of facial features. The 24-hour urinary 17-ketosteroids ranged between 14.4 mg. and 21.5 mg. and were suppressed by dexamethasone. The 17-hydroxycorticosteroid excretion was normal. These and other findings suggested a diagnosis of adrenal virilism due to adrenocortical hyperplasia. In the absence of other discernible causes it appeared that the adrenal pathology was responsible for the Korsakoff's syndrome. Both conditions responded well to glucocorticoid therapy although low doses were necessary to avoid mania.It is speculated that the encephalopathy was due to an associated adrenal insufficiency. Although hypoadrenalism is accepted as a complication of only the infant form of adrenal virilism, it is noteworthy that this patient had pathological pigmentation of her skin.

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adrenogenital Syndrome; Amobarbital; Antipsychotic Agents; Barbiturates; Female; Glutethimide; Hirsutism; Humans; Hypertrichosis; Korsakoff Syndrome; Phenothiazines; Prednisone; Thioridazine; Trifluoperazine; Virilism; Wernicke Encephalopathy

Topics: 17-Ketosteroids; Adolescent; Adrenal Cortex Hormones; Adrenal Gland Diseases; Adrenal Hyperplasia, Congenital; Aldosterone; Biomedical Research; Blood; Child; Creatine; Creatinine; Diet, Sodium-Restricted; Humans; Infant; Infant, Newborn; Natriuresis; Pregnanediol; Pregnanetriol; Sodium; Sodium, Dietary; Steroids

Topics: 17-Ketosteroids; Adrenal Cortex Hormones; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adrenogenital Syndrome; Age Determination by Skeleton; Blood Chemical Analysis; Classification; Cortisone; Desoxycorticosterone; Drug Therapy; Humans; Hydrocortisone; Hyperplasia; Infant; Infant, Newborn; Infant, Newborn, Diseases; Urine

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Cortex; Adrenal Gland Diseases; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Androsterone; Blood Chemical Analysis; Child; Dehydroepiandrosterone; Humans; Hyperplasia; Pituitary-Adrenal Function Tests; Testosterone; Urine

Topics: 17-Ketosteroids; Adenoma; Adrenal Gland Diseases; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adrenogenital Syndrome; Cholesterol; Chromatography; Dehydroepiandrosterone; Dexamethasone; Drug Therapy; Gonadotropins; Humans; Hydrocortisone; Lipids; Male; Pathology; Puberty; Puberty, Precocious; Sexual Maturation; Surgical Procedures, Operative; Urine

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Blood; Body Fluids; Child; Cortisone; Drug Therapy; Humans; Hydrocortisone; Infant; Infant, Newborn; Pregnanetriol; Progestins; Urine

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Cortex; Adrenal Gland Diseases; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adrenogenital Syndrome; Blood; Cushing Syndrome; Estrogens; Humans; Hyperplasia; Pharmacology; Pregnanetriol; Triamcinolone; Urine

Topics: 17-Ketosteroids; Adrenal Cortex Hormones; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Body Fluids; Child; Cortisone; Drug Therapy; Urine

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Homosexuality; Humans; Infertility, Male; Male

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Corticosterone; Dexamethasone; Estradiol; Heart Defects, Congenital; Humans; Hydrocortisone; Pregnanediol; Triamcinolone

Topics: 17-Ketosteroids; Adrenal Gland Diseases; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Anatomy; Etiocholanolone; Fever; Hyperplasia

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome

Topics: 17-Ketosteroids; Adenoma; Adenoma, Chromophobe; Adolescent; Adrenal Cortex Hormones; Adrenal Hyperplasia, Congenital; Adrenalectomy; Adrenocorticotropic Hormone; Adrenogenital Syndrome; Blood Chemical Analysis; Cushing Syndrome; Dexamethasone; Humans; Male; Progesterone; Testicular Neoplasms; Urine

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adrenogenital Syndrome; Androgens; Androsterone; Cysts; Female; Humans; Ovary; Polycystic Ovary Syndrome; Testosterone; Thyroidectomy

Topics: 17-Ketosteroids; Adenoma; Adrenal Cortex Hormones; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adrenocorticotropic Hormone; Adrenogenital Syndrome; Aldosterone; Cholesterol; Cushing Syndrome; Follicle Stimulating Hormone; Humans; Metabolism; Pituitary-Adrenal Function Tests; Pregnanediol

Topics: 17-Ketosteroids; Adolescent; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Child; Clitoris; Disorders of Sex Development; Female; Humans; Hyperplasia; Infant, Newborn; Pituitary-Adrenal Function Tests; Prednisone; Surgical Procedures, Operative

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Bone and Bones; Child; Cortisone; Gonadotropins; Growth; Netherlands; Statistics as Topic; Urine

Topics: 17-Ketosteroids; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Child; Cushing Syndrome; Gonads; Humans; Male; Pathology; Surgical Procedures, Operative; Testis; Urine

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Biological Phenomena; Dexamethasone; Growth; Medical Records; Methylprednisolone; Physiological Phenomena; Prednisone

Topics: 17-Ketosteroids; Adrenal Cortex; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Adrenocorticotropic Hormone; Chromatography

Topics: 17-Ketosteroids; Adrenal Cortex Hormones; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Anovulation; Female; Humans; Infertility; Infertility, Female

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Steroids

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Chromatography; Humans; Pregnanediol

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Glands; Adrenal Hyperplasia, Congenital; Chromatography; Humans

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Female; Humans; Prednisone; Vagina; Vaginal Smears

Topics: 17-Ketosteroids; Adrenal Cortex; Adrenal Cortex Diseases; Adrenal Hyperplasia, Congenital; Familial Mediterranean Fever; Fever; Humans; Hyperplasia; Hypertrophy; Male; Medical Records

Topics: 17-Ketosteroids; Adrenal Cortex; Adrenal Cortex Diseases; Adrenal Hyperplasia, Congenital; Chorionic Gonadotropin; Female; Gonadotropins; Hormones; Humans

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Cytodiagnosis; Female; Humans; Vagina

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Chromatography; Disorders of Sex Development; Follow-Up Studies; Humans; Medical Records; Steroids; Urogenital Abnormalities; Urogenital System

Topics: 17-Ketosteroids; Adrenal Cortex; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Female; Hormones; Humans; Hyperplasia; Virilism

Topics: 17-Ketosteroids; Adrenal Cortex; Adrenal Cortex Diseases; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Cushing Syndrome; Hormones; Hydrocortisone

Topics: 17-Ketosteroids; 46, XX Disorders of Sex Development; Adrenal Hyperplasia, Congenital; Adrenal Insufficiency; Adrenogenital Syndrome; Genetic Diseases, X-Linked; Hormones; Hypoadrenocorticism, Familial; Prednisone

Topics: 17-Ketosteroids; Acromegaly; Addison Disease; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Androgens; Cushing Syndrome; Dehydroepiandrosterone; Endocrine System Diseases; Humans; Pituitary ACTH Hypersecretion; Puberty, Precocious; Steroids; Urine

Topics: 17-Ketosteroids; Adrenal Cortex; Adrenal Cortex Diseases; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Steroids; Urine

Topics: 17-Ketosteroids; Adrenal Cortex; Adrenal Cortex Diseases; Adrenal Hyperplasia, Congenital; Steroids

Topics: 17-Ketosteroids; Adrenal Gland Diseases; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Cushing Syndrome; Humans; Hyperplasia

Topics: 17-Ketosteroids; Adrenal Glands; Adrenal Hyperplasia, Congenital; Androgens; Biological Transport; Body Fluids; Cortisone; Humans; Steroids