17-ketosteroids and Disorders-of-Sex-Development

This paper has been designed to review some current concepts about biochemistry, pathophysiology and clinics of androgen-binding proteins, both TeBG and cellular receptors. Some important experimental models to clarify the interactions between androgens and target cells are mentioned. Further, major clinical applications in which binding parameters were or will be of great importance are discussed in details.

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Androgen-Binding Protein; Androgen-Insensitivity Syndrome; Breast Neoplasms; Carrier Proteins; Danazol; Disorders of Sex Development; Female; Humans; Hyperthyroidism; Infertility, Male; Liver Cirrhosis; Male; Minoxidil; Receptors, Androgen; Sex Hormone-Binding Globulin; Spironolactone

The testicular feminization syndrome (TFS) in its complete form results in total feminization due to a nuclear inaction of androgens, and the female role should be supported with postpubertal orchiectomy to avoid the risk of malignancy. Incomplete forms of the syndrome (ITFS) include Type I n which some degree of masculinization may be observed, prompting earlier gonadectomy, and Type II or pseudovaginal perineoscrotal hypospadias (PPSH) which is always characterized by pubertal masculinization, necessitating management and support of these patients as males. Other intersex abnormalities which must be differentiated include true hermaphroditism, the Swyer syndrome, males with 17-ketosteroid reductase deficiency, and Reifenstein's syndrome.

Topics: 17-Ketosteroids; Adolescent; Adult; Androgen-Insensitivity Syndrome; Androgens; Animals; Child; Diagnosis, Differential; Disorders of Sex Development; Female; Follicle Stimulating Hormone; Humans; Hydroxysteroid Dehydrogenases; Hypospadias; Infertility, Male; Male; Mice; Rats

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; Androgen-Insensitivity Syndrome; Disorders of Sex Development; Estrogens; Follicle Stimulating Hormone; Humans; Male; Sex Chromosomes; Testosterone

Topics: 17-Ketosteroids; Biopsy; Chromosome Aberrations; Diagnosis; Disorders of Sex Development; Embryology; Humans; Sex Chromatin; Surgical Procedures, Operative

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

Studies in six Arab individuals from Gaza with familial male pseudohermaphroditism (MPH) due to 17-ketoreductase deficiency revealed several metabolic aberrations associated with the disorder. Plasma LH, FSH, testosterone, and androstenedione concentrations were low in the two prepubertal patients. After hCG administration plasma androstenedione increased markedly. The four postpubertal MPH patients had very high plasma gonadotropin and androstenedione concentrations, the latter increasing further after hCG administration. Plasma testosterone concentrations in all six patients were moderately low or normal for age and increased little after hCG administration. Spermatic venous testosterone concentrations, measured in three adults, were within the normal range in two and low in one, while androstenedione concentrations were markedly elevated (15- to 32-fold) in all three patients. Kinetic analyses of progesterone and androstenedione metabolism were performed in testicular tissue of these patients and compared to the results in two control subjects. While testicular tissue from the two prepubertal patients metabolized progesterone only to androstenedione, and that to a limited extent, the tissue from the four postpubertal patients metabolized progesterone to 16 alpha- and 16 beta-hydroxyprogesterone, 17 alpha-hydroxyprogesterone, androstenedione, and testosterone and metabolized androstenedione to testosterone. The Michaelis constants of these reactions were similar in the tissue from the MPH and the control subjects. The production of 16 alpha- plus 16 beta-hydroxyprogesterone was 5.4- to 10.3-fold greater, and 17-hydroxylase activity was 5.8- to 8.1-fold lower in the testes of the postpubertal MPH patients compared to values in the control subjects. The preference of androstenedione production through the delta 4- or delta 5-pathways was examined in the testes of two adult MPH patients using an equimolar concentration of [14C]progesterone and [3H]pregnenolone as substrates. While the flow of substrates in the control testes was equal or slightly greater through the delta 4-pathway, the delta 5-pathway predominated in the testes of the MPH patients. A large amount of dehydroepiandrosterone accumulated when NAD, the cofactor for 3 beta-hydroxysteroid dehydrogenase-isomerase, was omitted, supporting the contention that androstenedione was produced in the testes of the MPH patients mainly through the delta 5-pathway. Additional support for this suggestion was

Topics: 17-Ketosteroids; Adolescent; Adult; Androgens; Androstenedione; Child, Preschool; Cholesterol; Disorders of Sex Development; Ethnicity; Humans; Israel; Male; Progesterone; 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

Eleven cases of true hermaphroditism (eight previously reported) studied at The Johns Hopkins Hospital are presented. The two most recently observed patients had what is to be considered an appropriate endocrine evaluation. This includes karyotyping, and measurement of 24-hour urinary 17-ketosteroids, gonadotropins, plasma testosterone, dihydrotestosterone, and all their precursors before and following a human chorionic gonadotropin stimulation test, and a sexual skin biopsy for androgen receptor binding and 5 alpha-reductase activity. The differential diagnosis of true hermaphroditism is discussed and an approach to gender assignment is presented.

Topics: 17-Ketosteroids; 3-Oxo-5-alpha-Steroid 4-Dehydrogenase; Adolescent; Adult; Child; Diagnosis, Differential; Dihydrotestosterone; Disorders of Sex Development; Female; Gonadotropins; Humans; Infant; Karyotyping; Male; Receptors, Androgen; Testosterone

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

Topics: 17-Ketosteroids; Adolescent; Adult; Child; Child, Preschool; Diagnosis, Differential; Disorders of Sex Development; Female; Humans; Infant; Male; Methods; Sex Chromatin; Sex Determination Analysis

Topics: 17-Ketosteroids; Adult; Castration; Disorders of Sex Development; Female; Gynecomastia; Humans; Leydig Cell Tumor; Male; Testicular Neoplasms; Testosterone

A 12 year old child (46,XY) with 17-ketosteroid reductase deficiency was investigated. The patient, reared as a female, was first noted to have clitoromegaly at 10 years of age. Increased facial hair, deepening of the voice, acne, increased body hair and minimal breast development were noted at 12 years. delta4-Androstenedione (delta4) in peripheral blood was markedly elevated (1913 ng/100 ml) whereas testosterone (T) was in the male range of Tanner III puberty (240 ng/100 ml). Thus, delta4/T in this patient was 9.4, compared to a normal ration of 0.15 to 0.25. T/DHT was normal (10.5). Oestrone (Oe1) level was slightly elevated (6 ng/100 ml, normal: 2.5-4.5 ng/100 ml). Oestradiol (Oe2) was normal (1.7 ng/100 ml, normal: 1.5-3 ng/100 ml. Oe1/Oe2 was slightly elevated (3.6, normal: 1-2). At laparotomy, testes were found and spermatic vein blood was obtained prior to castration. Androgen determinations of spermatic vein blood demonstrated extremely high delta4 levels (283 microgram/100 ml) and low levels of T (16 microgram/100 ml). delta4/T in spermatic vein was 17, higher than in the peripheral blood, suggesting intact peripheral conversion of delta4 to T. Incubation of testes slices with delta4 demonstrated severely impaired conversion to T. Conversion of Oe1 to Oe2 was impaired to a lesser degree.. 17-ketosteroid reductase deficiency was documented in vivo by impaired conversion of precursor hormones resulting in higher than normal delta4T and Oe1/Oe2 ratios in blood. In vitro studies with testes slices confirmed the enzymatic defect.

Topics: 17-Hydroxysteroid Dehydrogenases; 17-Ketosteroids; Child; Disorders of Sex Development; Female; Gonadal Steroid Hormones; Humans

Topics: 17-Ketosteroids; Abnormalities, Multiple; Adult; Chorionic Gonadotropin; Disorders of Sex Development; Female; Humans; Hypothalamo-Hypophyseal System; Male; Prolactin; Sex Chromosome Aberrations; Testis; Testosterone; X Chromosome

A 21-year-old 46 XY individual with familial male pseudohermaphroditism was investigated. Phenotype consisted of pseudovaginal perineoscrotal hypospadias with bilateral inguinal gonads and a masculine habitus without gynecomastia. Plasma testosterone, cortisol, follicle stimulating hormone, urinary 17-ketosteroids, and 17-ketogenic steroids were within the normal male range. Plasma dihydrotestosterone was at the lower limit of the normal male range. Plasma luteinizing hormone was three times and plasma estradiol was about one and a half times the upper limit of normal for men. These results are consistent with a partial defect in the mechanism of action of testosterone. The differential diagnosis of various forms of male pseudohermaphroditism is discussed.

Topics: 17-Ketosteroids; Adult; Dihydrotestosterone; Disorders of Sex Development; Estradiol; Follicle Stimulating Hormone; Humans; Hydrocortisone; Hypospadias; Luteinizing Hormone; Male; Pedigree; Phenotype; Testosterone; Virilism

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adult; Disorders of Sex Development; Estradiol; Female; Follicle Stimulating Hormone; Humans; Luteinizing Hormone; Steroids; Testosterone; Turner Syndrome

A new case of testicular 17 ketosteroid reductase (17 KSR) deficiency without gynecomastia was investigated. Delta4 androstenedione (15.6 ng/ml) was ten times the normal range, unchanged after dexamethasone administration. In contrast, plasma testosterone (4.1 ng/ml) was in the low normal male range and plasma dehydroepiandrosterone (4.2 ng/ml) was normal. Plasma luteinizing hormone and follicle-stimulating hormone were increased (162 and 470 ng/ml LER 907 respectively). After adrenal suppression and human chorionic gonadotropin stimulation, the increase of delta4 androstenedione was in contrast with the inertia of testosterone. In spermatic venous plasma delta4 androstenedione level (293.2 ng/ml) was very high and testosterone level (7.1 ng/ml) a hundred times below the normal mean. Plasma estrone (124 pg/ml) was increased and estradiol (22 pg/ml) was normal. In spermatic venous plasma estrone was elevated and estradiol very low (1380 and 32 pg/ml respectively). It is the third case of 17 KSR deficiency where the lack of E2 increase explains the absence of gynecomastia.

Topics: 17-Ketosteroids; Androstane-3,17-diol; Androstenedione; Blood Proteins; Child; Dehydroepiandrosterone; Disorders of Sex Development; Estradiol; Follicle Stimulating Hormone; Humans; Hydroxysteroid Dehydrogenases; Luteinizing Hormone; Male; Testis; Testosterone

A 16-year-old phenotypic female with XY genotype presented an unusual form of nonfamilial male pseudohermaphroditism. Seemingly a normal girl during childhood, the patient failed to undergo pubertal changes presenting with scant pubic hair, absent axillary hair, lack of breast development, retarded bone age and primary amenorrhea. Neither uterus nor adnexa were palpable above the blind-ending vagina. Serum testosterone and estradiol were barely detectable by radioimmunoassay, while LH and FSH reached castrate levels. Two small testes were removed from the pelvic sidewalls which, on biopsy, showed atrophy and hyalinization of seminiferous tubules, but clusters of Leydig cells without signs of hypertrophy or hyperplasia. Administration of testosterone resulted in urinary nitrogen retention and a decrease in serum LH and FSH. Radioimmunoassay of various serum or plasma steroids and gas chromatographic determination of urinary steroids prior to and following ACTH stimulation yielded results which permitted to rule out 20,22-desmolase, 3beta-hydroxysteroid dehydrogenase, 17-hydroxylase and 17beta-hydroxysteroid dehydrogenase deficiency. Low plasma dehydroepiandrosterone sulfate (DHEA-S) and androstenedione (delta4 A) concentrations, low urinary 17-ketosteroid and particularly low dehydroepiandrosterone (DHEA) excretion and the minimal rise of plasma DHEA-S and delta4 A and of urinary DHEA in response to ACTH in conjunction with a normal response of other serum and urinary C-21 steroids are consistent with 17,20-desmolase deficiency. Direct confirmation of this defect, however, seems impossible in the absence of in vitro studies of testicular steroidogenesis.

Topics: 17-alpha-Hydroxypregnenolone; 17-Ketosteroids; Adolescent; Adrenocorticotropic Hormone; Dehydroepiandrosterone; Disorders of Sex Development; Estradiol; Female; Follicle Stimulating Hormone; Humans; Hydroxyprogesterones; Luteinizing Hormone; Lyases; Male; Phenotype; Pregnenolone; Progesterone; Testosterone

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

Two brothers with Reifenstein syndrome underwent LH-RH and HCG tests at various ages ranging from 13 to 17 years. We found that at age 13 the plasma LH and FSH response to one LH-RH injection was normal. After the age of 14, the basal plasma concentration of LH and FSH and their response to LH-RH became elevated. Concomitantly the plasma testosterone levels rose to abnormal levels. These findings are compatible with progressive development of primary gonadal dysfunction and with peripheral insensitivity to testosterone.

Topics: 17-Ketosteroids; Adolescent; Chorionic Gonadotropin; Disorders of Sex Development; Follicle Stimulating Hormone; Gonadotropin-Releasing Hormone; Gynecomastia; Humans; Hypospadias; Infertility, Male; Luteinizing Hormone; Male; Puberty; Testosterone

Light and electron microscopic observations of the testes in male pseudohermaphrodism due to deficiency of 17-ketosteroid reductase demonstrate an increased thickness of the walls of the seminiferous tubules. Although the seminiferous tubules are filled mostly by Sertoli cells containing crystalloids of Charcot-Bottcher, clusters of spermatogonia and spermatocytes are located at infrequent intervals along their lengths. Differentiation of spermatogenetic cells beyond the spermatocyte stage was not observed. Hyperplasia of Leydig cells, which are structurally similar to those of the normal testis, was pronounced. Pigment bodies were present in Leydig cells, whereas crystals of Reinke were not observed. The decreases in plasma androstenedione, testosterone and estrone following orchiectomy and the presence of a well-developed system of organelles (smooth endoplasmic reticulum and mitochondria containing tubular cristae), typical of steroid-secreting cells, indicate that the Leydig cells were active in steroid hormone synthesis, albeit deficient in 17-ketosteroid reductase activity.

Topics: 17-Ketosteroids; Cell Nucleolus; Cell Nucleus; Disorders of Sex Development; Endoplasmic Reticulum; Golgi Apparatus; Humans; Inclusion Bodies; Intercellular Junctions; Leydig Cells; Male; Mitochondria; Organoids; Oxidoreductases; Seminiferous Tubules; Sertoli Cells; Spermatocytes; Spermatogonia; Steroids; Testis

Topics: 17-Ketosteroids; Adolescent; Androstenedione; Disorders of Sex Development; Humans; Luteinizing Hormone; Male; Oxidoreductases; Pedigree; Phenotype; Testis; Testosterone

Topics: 17-Ketosteroids; Androstenedione; Child, Preschool; Chorionic Gonadotropin; Corticosterone; Dehydroepiandrosterone; Diagnosis, Differential; Disorders of Sex Development; Estrogens; Female; Follicle Stimulating Hormone; Humans; Hydroxysteroids; Karyotyping; Leydig Cells; Luteinizing Hormone; Male; Methods; Mullerian Ducts; Pregnanetriol; Radioimmunoassay; Testosterone; Thyroxine

Topics: 17-Ketosteroids; Adolescent; Androstenedione; Circadian Rhythm; Dehydroepiandrosterone; Dihydrotestosterone; Disorders of Sex Development; Estradiol; Estrone; Female; Follicle Stimulating Hormone; Gynecomastia; Humans; Hydroxyprogesterones; Hydroxysteroid Dehydrogenases; In Vitro Techniques; Luteinizing Hormone; Male; Oxidoreductases; Protein Binding; Radioimmunoassay; Sex Factors; Testis; Testosterone

Topics: 17-Ketosteroids; Adolescent; Disorders of Sex Development; Female; Humans; Infant; Infant, Newborn; Male; Oxidoreductases; Sex Determination Analysis

Topics: 17-Ketosteroids; Adrenal Glands; Catheterization; Child; Child, Preschool; Disorders of Sex Development; Endoscopy; Female; Gonads; Humans; Hydrocortisone; Hyperplasia; Hypospadias; Hysterosalpingography; Infant; Infant, Newborn; Karyotyping; Male; Ovary; Sex Chromatin; Sex Determination Analysis; Testis; Turner Syndrome; Urinary Bladder; Vagina

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-Hydroxycorticosteroids; 17-Ketosteroids; Adult; Disorders of Sex Development; Female; Glucose Tolerance Test; Growth Hormone; Humans; Hyperlipidemias; Hypoglycemia; Hypopituitarism; Lipids; Luteinizing Hormone; Male; Metyrapone; Pseudopseudohypoparathyroidism; Sex Characteristics; Sex Factors

This is a complete outlined summary of menstrual disorders of puberty. First diagnostic procedures are suggested, such as history, evaluation of degree of pubertal development, and gynecologic, neurologic, and psychiatric exam, with temperature curve, vaginal smear, basal and stimulated hormone tests, and chromosome studies as required. Common but probably not pathologic complaints include dysmenorrhea (rule out ovarian cyst, endometriosis, congenital malformation); menstrual irregularity (rule out Stein-Levinthal syndrome); menometrorrhagia (rule out Willebrand's syndrome and vaginal or uterine tumor). Primary amenorrhea, if not simply late development, could be due to ovarian dysgenesis, Turner's syndrome, sellar tumor, olfactory-genital syndrome, testicular feminization syndrome, or malformation of the vagina or uterus. Amenorrhea with virilization may be of adrenal or ovarian origin, distinguished by whether urinary ketosteroids are elevated after adrenal inhibition or after ovarian stimulation. Secondary amenorrhea may possibly be related to hypothyroidism, adrenal androgens, pregnancy, or psychogenic causes. If urinary gonadotropins are high, ovarian tumor, primitive ovarian insufficiency, or gonadal dysgenesis may be suspected; of if gonadotropins are low, primitive hypothalamic syndrome, tumor, or iatrogenic causes may be considered as causes of secondary amenorrhea.

Topics: 17-Ketosteroids; Adolescent; Disorders of Sex Development; Estrogens; Female; Follicle Stimulating Hormone; Gonadotropins, Pituitary; Humans; Menstruation Disturbances; Pregnanediol; Puberty; Sex Characteristics; Uterine Hemorrhage; Vaginal Smears

Topics: 17-Ketosteroids; Adolescent; Adrenocortical Hyperfunction; Body Height; Bone Development; Child; Child, Preschool; Cortisone; Disorders of Sex Development; Dose-Response Relationship, Drug; Female; Glucocorticoids; Growth; Humans; Hydrocortisone; Infant; Ketosteroids; Male; Metabolism, Inborn Errors; Mixed Function Oxygenases; Prednisone; Pregnanediol; Pregnanetriol; Puberty, Precocious; Syndrome

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-Ketosteroids; Adrenocorticotropic Hormone; Androstenedione; Dexamethasone; Disorders of Sex Development; Estradiol; Estriol; Estrone; Female; Fluoxymesterone; Follicle Stimulating Hormone; Humans; Hydroxyprogesterones; Hydroxysteroid Dehydrogenases; Luteinizing Hormone; Male; Metabolism, Inborn Errors; Middle Aged; Nitrogen; Progesterone; Testis; Testosterone

Topics: 17-Ketosteroids; Adrenal Glands; Adrenocorticotropic Hormone; Animals; Castration; Disorders of Sex Development; Follicle Stimulating Hormone; Hypertrophy; Hypophysectomy; Ketosteroids; Luteinizing Hormone; Male; Rats

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenocorticotropic Hormone; Antigens; Blood Glucose; Cortisone; Creatinine; Dexamethasone; Disorders of Sex Development; Eunuchism; Gigantism; Growth Hormone; Humans; Hydrocortisone; Hypophysectomy; Insulin; Male; Metyrapone; Pituitary Neoplasms; Thyrotropin; Time Factors; Yttrium Isotopes

Topics: 17-Ketosteroids; Adolescent; Chorionic Gonadotropin; Disorders of Sex Development; Female; Gonadal Steroid Hormones; Growth Disorders; Humans; Hypogonadism; Ovary; Pituitary-Adrenal Function Tests; Sex Chromatin

Topics: 17-Ketosteroids; Adolescent; Castration; Disorders of Sex Development; Female; Growth Disorders; Growth Hormone; Gynecomastia; Humans; Hypospadias; Hysterectomy

Topics: 17-Ketosteroids; Androgens; Birth Weight; Disorders of Sex Development; Female; Fetal Diseases; Humans; Infant, Newborn; Karyotyping; Maternal-Fetal Exchange; Ovarian Neoplasms; Pregnancy; Pregnancy Complications; Pregnanetriol; Virilism

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adult; Disorders of Sex Development; Epididymis; Follicle Stimulating Hormone; Humans; Karyotyping; Luteinizing Hormone; Male; Sex Chromatin; Sex Chromosome Aberrations; Skin; Testis; Testosterone

Topics: 17-Ketosteroids; Adrenal Glands; Animals; Disorders of Sex Development; Female; Gonadotropins, Pituitary; Male; Molecular Biology; Norway; Organ Size; Parabiosis; Pregnancy; Rats; Testis; Testosterone

Topics: 17-Ketosteroids; Disorders of Sex Development; Female; Humans; Infant, Newborn; Karyotyping; Laparotomy; Male; Sex Chromatin

Topics: 17-Ketosteroids; Adolescent; Adult; Androgen-Insensitivity Syndrome; Androsterone; Dehydroepiandrosterone; Disorders of Sex Development; Estradiol; Estrone; Female; Feminization; Glucocorticoids; Gynecomastia; Humans; Male; Oxidoreductases; Puberty; Radioimmunoassay; Testis; Testosterone

Topics: 17-alpha-Hydroxypregnenolone; 17-Hydroxycorticosteroids; 17-Ketosteroids; Androstanes; Carbon Isotopes; Chromatography, Ion Exchange; Chromatography, Paper; Dehydroepiandrosterone; Disorders of Sex Development; Female; Humans; Hydroxyprogesterones; In Vitro Techniques; Male; Ovary; Pregnanes; Pregnenolone; Progesterone; Sterols; Testis; Testosterone; Tritium

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-Ketosteroids; Androstenes; Animals; Bile Acids and Salts; Biotransformation; Carbon Isotopes; Chenodeoxycholic Acid; Cholestenes; Cholesterol; Chromatography, Gas; Chromatography, Thin Layer; Disorders of Sex Development; Female; Hydroxylation; Ketosteroids; Male; Mass Spectrometry; Microsomes, Liver; NADP; Progesterone; Rats; Sex Factors; Taurine; Testosterone; Tritium

Topics: 17-Ketosteroids; Adolescent; Adult; Androgen-Insensitivity Syndrome; Child; Dermatoglyphics; Disorders of Sex Development; Dwarfism; Female; Gene Frequency; Genitalia, Male; Humans; Hypogonadism; Karyotyping; Leukocytes; Male; Mouth Mucosa; Mullerian Ducts; Pedigree; Spinal Dysraphism; Wolffian Ducts

Male rats were exposed to prenatal or postnatal stress, or both. The prenatally stressed males showed low levels of male copulatory behavior and high rates of female lordotic responding. Postnatal stress had no effect. The modifications are attributed to stress-mediated alterations in the ratio of adrenal to gonadal androgens during critical stages of sexual differentiation. Specifically, it appears that stress causes an increase in the weak adrenal androgen, androstenedione, from the maternal or fetal adrenal cortices, or from both, and a concurrent decrease in the potent gonadal androgen, testosterone.

Topics: 17-Ketosteroids; Androstanes; Animals; Copulation; Disorders of Sex Development; Ejaculation; Environment; Female; Male; Pregnancy; Pregnancy Complications; Rats; Sex Factors; Sexual Behavior, Animal; Stress, Physiological; Testosterone

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; Adolescent; Adult; Androgen-Insensitivity Syndrome; Androstanes; Carbon Isotopes; Dihydrotestosterone; Disorders of Sex Development; Female; Humans; Male; Metabolic Clearance Rate; Testosterone; Tritium

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adult; Aldosterone; Corticosterone; Desoxycorticosterone; Dexamethasone; Disorders of Sex Development; Estrogens; Humans; Hydroxycorticosteroids; Hypertension; Hypokalemia; Karyotyping; Male; Metabolic Diseases; Mixed Function Oxygenases; Pregnanediol; Pregnenolone; Progesterone

Topics: 17-Ketosteroids; Androgen-Insensitivity Syndrome; Cytodiagnosis; Cytogenetics; Diagnosis, Differential; Disorders of Sex Development; Female; Genitalia, Female; Humans; Infant, Newborn; Karyotyping; Male; Mosaicism; Mouth Mucosa; Sex Chromosome Aberrations

Topics: 17-Ketosteroids; Adult; Amenorrhea; Bone and Bones; Disorders of Sex Development; Facial Bones; Female; Femur; Genitalia, Female; Gonadotropins; Humans; Karyotyping; Skull; Spinal Canal

Topics: 17-Ketosteroids; Androstanes; Animals; Carbon Isotopes; Chromatography, Thin Layer; Crystallization; Disorders of Sex Development; Estradiol; Estrone; Female; Fishes; Gonads; Hydroxyprogesterones; In Vitro Techniques; Male; Ovary; Pregnenolone; Progesterone; Testosterone; Tritium

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

Topics: 17-Ketosteroids; Adolescent; Adrenal Cortex Hormones; Androstanes; Carbon Isotopes; Castration; Chromatography; Dehydroepiandrosterone; Disorders of Sex Development; Female; Gynecomastia; Humans; Male; Metabolic Clearance Rate; Metabolism, Inborn Errors; Nitrogen; Oxidoreductases; Pedigree; Testis; Testosterone; Tritium

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Gland Diseases; Aging; Aldosterone; Androstanes; Androsterone; Child; Child, Preschool; Chlorides; Chromatography, Gas; Chromatography, Thin Layer; Dehydroepiandrosterone; Disorders of Sex Development; Etiocholanolone; Female; Glucuronates; Humans; Hydrocortisone; Hydroxysteroid Dehydrogenases; Hyperkalemia; Hyperplasia; Hyponatremia; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Potassium; Pregnanetriol; Pregnenolone; Sodium; Sulfates; Testosterone

In 22 children with male pseudohermaphroditism, plasma concentrations of testosterone and dehydroandrosterone sulfate were measured before and after HCG stimulation. In ten of them, nitrogen retention was measured both before and during treatment with testosterone-propionate. The results of this investigation allow the patients to be classified in the following groups 1) nine in which both the testicular function and the end-organ sensitivity to androgens were normal; 2) nine patients had an abnormal testicular function; 3) four patients had the testicular feminization syndrome. In addition, in one adolescent patient with familial male pseudohermaphroditism and gynecomastia, the pattern of plasma androgens under basal conditions, after HCG and following gonadectomy, suggest that the patient had an incomplete 17-ketosteroid reductase defect.

Topics: 17-Ketosteroids; Adolescent; Alcohol Oxidoreductases; Androgen-Insensitivity Syndrome; Androstenedione; Androsterone; Child; Child, Preschool; Chorionic Gonadotropin; Dehydroepiandrosterone; Disorders of Sex Development; Estrone; Female; Humans; Infant; Infant, Newborn; Male; Nitrogen; Pedigree; Testis; Testosterone

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenocorticotropic Hormone; Clitoris; Dexamethasone; Disorders of Sex Development; Dysgerminoma; Estrogens; Female; Fluoxymesterone; Genital Diseases, Female; Gonadotropins; Humans; Hyperplasia; Ovarian Neoplasms; Pituitary-Adrenal Function Tests; Testosterone

Topics: 17-Ketosteroids; Adrenal Glands; Body Height; Disorders of Sex Development; Female; Humans; Karyotyping; Ketosteroids; Sex Chromosomes; Turner Syndrome

Progressive idiopathic masculinization of the clitoris was observed between the ages of 13 and 30 months in a healthy girl, otherwise normally developed except for a patent ductus arteriosus.

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Child, Preschool; Clitoris; Disorders of Sex Development; Female; Humans; Hypertrophy; Pregnanetriol

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Autoradiography; Cytogenetics; Disorders of Sex Development; Female; Fluorescence; Humans; Infant; Infant, Newborn; Karyotyping; Mosaicism; Sex Chromosome Aberrations

Topics: 17-Ketosteroids; Androstanes; Androsterone; Chromatography, Paper; Crystallization; Dihydrotestosterone; Disorders of Sex Development; Embryo, Mammalian; Fallopian Tubes; Female; Fetus; Humans; In Vitro Techniques; Male; Mullerian Ducts; Muscles; Organ Size; Perineum; Skin; Testis; Testosterone; Thigh; Tritium; Vas Deferens; Wolffian Ducts

Topics: 17-Ketosteroids; Adolescent; Androgen-Insensitivity Syndrome; Androsterone; Castration; Child; Dehydroepiandrosterone; Disorders of Sex Development; Etiocholanolone; Humans; Leydig Cells; Male; Middle Aged; Mosaicism; Sex Chromosome Aberrations; Testis

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; Androstanes; Animals; Carbon Isotopes; Chromatography, Gas; Chromatography, Thin Layer; Cryptorchidism; Disorders of Sex Development; Estradiol; Estrone; Hydroxyprogesterones; Hydroxysteroid Dehydrogenases; Hyperplasia; In Vitro Techniques; Leydig Cells; Male; Metabolism, Inborn Errors; Pregnenolone; Radioisotope Dilution Technique; Rats; Rodent Diseases; Testis; Testosterone

Topics: 17-Ketosteroids; Adolescent; Adult; Color Vision Defects; Disorders of Sex Development; Eunuchism; Follicle Stimulating Hormone; Gynecomastia; Humans; Hypogonadism; Hypospadias; Infertility, Male; Intellectual Disability; Male; Olfaction Disorders; Phenotype; Sex Chromosome Aberrations; Testicular Diseases

Topics: 17-Ketosteroids; Adult; Disorders of Sex Development; Estrogens; Female; Humans; Karyotyping; Ovary; Pedigree; Phenotype; Sex Chromosomes; Turner Syndrome

Topics: 17-Ketosteroids; Disorders of Sex Development; Female; Genitalia; Genitalia, Female; Genitalia, Male; Humans; Hypospadias; Infant, Newborn; Male; Turner Syndrome

Topics: 17-Ketosteroids; Adolescent; Adult; Child; Child, Preschool; Disorders of Sex Development; Female; Gonadotropins, Pituitary; Gonads; Humans; Karyotyping; Sex Chromatin; Turner Syndrome

This is the first report of a male with 17alpha-hydroxylase deficiency resulting in male pseudohermaphroditism, ambiguous external genitalia, absence of male secondary sexual characteristics, and gynecomastia at puberty. Diagnosis was based on extensive studies of steroid metabolism including the following: low urinary excretion of 17-ketosteroids and 17-hydroxycorticoids which did not increase after ACTH; no response of very low plasma testosterone and dehydroepiandrosterone to adrenocorticotropin (ACTH) or chorionic gonadotropin; and low urinary aldosterone and plasma renin which increased after dexamethasone. Secretion rates of 17-hydroxylated steroids, cortisol (F) and 11-desoxycortisol (S), were very low while desoxycorticosterone (DOC) and corticosterone (B) secretion rates were increased sevenfold. Results expressed as milligrams per meter squared per day were as follows: F, 1.3; S, 0.023; DOC, 0.35; and B, 16 (mean normal values were F, 7.5; S, 0.26; DOC, 0.055, and B, 2.2). Plasma gonadotropins were markedly increased (FSH, 106; LH, 364 mIU/ml). Testicular biopsies revealed interstitial-cell hyperplasia and early spermatogenesis. Karyotype was 46/XY. Pedigree showed no other affected member. At laparotomy ovaries, uterus, and fallopian tubes were absent, vas deferens was incomplete, and prostate was present. External genitalia consisted of small phallus, bifid scrotum, third-degree hypospadias, and small vagina. At puberty there was no growth of body hair or phallic enlargement. Biopsy of marked gynecomastia showed both ducts and acini. Testosterone administration produced virilization. Sexual ambiguity demonstrates strong dependence of external genitalia on androgens for male differentiation. Suppression of Müllerian structures occurred despite female levels of testosterone indicating this step in male differentiation is not testosterone dependent. Pubertal breast development in this male supports the concept of femaleness during ontogeny unless counteracted by male factors. Diagnosis of other adrenocortical enzymatic deficiencies is excluded by the steroidal studies. The clinical response to testosterone excludes testicular feminization. Deficiency of 17-hydroxylation must be added to the cause of male pseudohermaphroditism.

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adult; Chorionic Gonadotropin; Dexamethasone; Disorders of Sex Development; Humans; Male; Metabolism, Inborn Errors; Mixed Function Oxygenases; Pedigree; Testis; Testosterone

Topics: 17-Ketosteroids; Androgens; Cytogenetics; Disorders of Sex Development; Female; Genitalia, Female; Genitalia, Male; Humans; Male; Pedigree; Sex Chromosomes; Testis

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Androgens; Clitoris; Disorders of Sex Development; Female; Humans; Hypertrophy; Pregnanes

Topics: 17-alpha-Hydroxypregnenolone; 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adult; Chorionic Gonadotropin; Dehydroepiandrosterone; Disorders of Sex Development; Humans; Hydroxyprogesterones; Hyperplasia; Leydig Cells; Male; Pregnenolone; Progesterone; Testis; Testosterone; Virilism

Topics: 17-Ketosteroids; Acetates; Adult; Androgen-Insensitivity Syndrome; Androstanes; Carbon Isotopes; Cholesterol; Chromatography, Paper; Chromatography, Thin Layer; Dehydroepiandrosterone; Disorders of Sex Development; Estradiol; Humans; Male; Microscopy, Electron; Pregnenolone; Sterols; Sulfatases; Sulfates; Testis; Testosterone

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Cortex Hormones; Androsterone; Body Height; Bone Development; Child; Clitoris; Dehydroepiandrosterone; Disorders of Sex Development; Etiocholanolone; Female; Humans; Hypogonadism; Karyotyping; Ovary; Sex Chromosome Aberrations; Testosterone; Turner Syndrome

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-Ketosteroids; Adolescent; Adult; Androgen-Insensitivity Syndrome; Androstanes; Androsterone; Carbon Isotopes; Disorders of Sex Development; Humans; Male; Oxidoreductases; Skin; Testosterone; Tritium

Topics: 17-Ketosteroids; Adult; Androgens; Diabetes Mellitus; Diagnosis, Differential; Disorders of Sex Development; Edema; Estrogens; Feces; Gonadotropins; Humans; Karyotyping; Laparotomy; Leg Ulcer; Male; Sex Chromosomes; Testosterone

Topics: 17-Ketosteroids; Adolescent; Adult; Child; Disorders of Sex Development; Gonadotropins; Humans; Karyotyping; Laparotomy; Male; Middle Aged; Sex Chromatin; Testis

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adult; Dehydroepiandrosterone; Disorders of Sex Development; Female; Humans; Pregnanetriol; Steroids

Topics: 17-Ketosteroids; Acetone; Adolescent; Androgen-Insensitivity Syndrome; Androstanes; Biotransformation; Carbon Isotopes; Chromatography, Thin Layer; Dehydroepiandrosterone; Disorders of Sex Development; Ethanol; Humans; In Vitro Techniques; Male; Methanol; Pregnenolone; Progesterone; Testis; Testosterone; Tritium; Water

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 Insufficiency; Adrenalectomy; Adult; Aged; Androgen-Insensitivity Syndrome; Castration; Chemistry, Clinical; Climacteric; Cryptorchidism; Disorders of Sex Development; Erectile Dysfunction; Estrogens; Eunuchism; Humans; Hypogonadism; Hypophysectomy; Hypothalamo-Hypophyseal System; Male; Middle Aged; Paraplegia; Puberty, Precocious; Spinal Cord Diseases; Testosterone

Topics: 17-Ketosteroids; Adolescent; Adult; Disorders of Sex Development; Female; Humans; Male; Methods; Prostheses and Implants; Sex Chromosome Aberrations; Skin Transplantation; Testis; Transplantation, Autologous; Uterus; Vagina

Topics: 17-Ketosteroids; Adult; Androgen-Insensitivity Syndrome; Androstanes; Androsterone; Carbon Isotopes; Chorionic Gonadotropin; Dihydrotestosterone; Disorders of Sex Development; Glucuronates; Humans; Hypogonadism; Hypopituitarism; Male; Middle Aged; Sulfates; Testosterone; Tritium; Turner Syndrome

Topics: 17-Ketosteroids; Androgens; Child; Child, Preschool; Disorders of Sex Development; Female; Humans; Infant; Infant, Newborn; Klinefelter Syndrome; Male; Pregnanetriol; Progesterone; Sex Determination Analysis; Turner Syndrome

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; Androgen-Insensitivity Syndrome; Androstanes; Carbon Isotopes; Chromatography, Thin Layer; Disorders of Sex Development; Estradiol; Estriol; Estrogens; Estrone; Humans; In Vitro Techniques; Male; Testis; Testosterone

Topics: 17-Ketosteroids; Adolescent; Adult; Chorionic Gonadotropin; Dexamethasone; Disorders of Sex Development; Female; Gonads; Humans; Hypogonadism; Male; Middle Aged; Polycystic Ovary Syndrome; Pregnanetriol; Turner Syndrome

Topics: 17-Ketosteroids; Adult; Age Factors; Amenorrhea; Androgen-Insensitivity Syndrome; Counseling; Disorders of Sex Development; Female; Humans; Karyotyping; Phenotype

Topics: 17-Ketosteroids; Adolescent; Adult; Amenorrhea; Cytodiagnosis; Diagnosis, Differential; Disorders of Sex Development; Female; Gonadotropins; Humans; Karyotyping; Klinefelter Syndrome; Male; Phenotype; Saliva; Sex Chromatin; Sex Chromosomes; Turner Syndrome

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Androgens; Castration; Chromatography; Disorders of Sex Development; Estrogens; Female; Humans; Male; Testis

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adult; Autoradiography; Chromosomes, Human, 21-22 and Y; Chromosomes, Human, 6-12 and X; Dermatoglyphics; Diethylstilbestrol; Disorders of Sex Development; Female; Genitalia, Male; Gonadotropins; Humans; Karyotyping; Male; Mosaicism; Sex Chromatin; Sex Chromosome Aberrations

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adult; Animals; Diagnosis, Differential; Disorders of Sex Development; Estrogens; Gonadotropins; Gonads; Humans; In Vitro Techniques; Karyotyping; Leukocytes; Mice; Mosaicism; Pregnanediol; Pregnenolone

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-Ketosteroids; Cryptorchidism; Disorders of Sex Development; Humans; Hypospadias; Infant, Newborn; Karyotyping; Male; Sex Chromatin; Sex Chromosomes; Sex Determination Analysis

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; Acromegaly; Adult; Androgens; Chromosome Aberrations; Chromosome Disorders; Disorders of Sex Development; Humans; Hypogonadism; Infertility, Male; Klinefelter Syndrome; Male; Olfaction Disorders; Sella Turcica; Sex Chromatin

Topics: 17-Ketosteroids; Adult; Androgen-Insensitivity Syndrome; Disorders of Sex Development; Female; Genetics, Medical; Gonadotropins; Humans; Male; Pedigree; Sex Determination Analysis; Testis; Uterus

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Cortex Hormones; Adrenal Glands; Adrenocorticotropic Hormone; Dexamethasone; Disorders of Sex Development; Estrogens; Female; Follicle Stimulating Hormone; Humans; Male; Testis

Topics: 17-Ketosteroids; Adolescent; Child; Child, Preschool; Chromatography, Paper; Chromosome Aberrations; Chromosome Disorders; Diagnosis, Differential; Disorders of Sex Development; Female; Humans; Infant; Klinefelter Syndrome; Male; Sex Chromatin; Turner Syndrome; Virilism

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; Adult; Disorders of Sex Development; Female; Humans; Karyotyping; Testosterone

Topics: 17-Ketosteroids; Dexamethasone; Disorders of Sex Development; Female; Follicle Stimulating Hormone; Humans; Testosterone; Urine

Topics: 17-Ketosteroids; Adult; Disorders of Sex Development; Gynecomastia; Humans; Liver Cirrhosis; Male; Middle Aged

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; 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-Hydroxycorticosteroids; 17-Ketosteroids; Blood Group Antigens; Chromosome Aberrations; Chromosome Disorders; Dehydroepiandrosterone; Dexamethasone; Disorders of Sex Development; Estradiol; Estriol; Estrone; Fertilization; Genetics, Medical; Haptoglobins; Humans; Mosaicism; Ovotesticular Disorders of Sex Development; Pathology; Pregnanediol; Pregnanetriol; Urine

Topics: 17-Ketosteroids; Adolescent; Androgen-Insensitivity Syndrome; Androsterone; Blood Group Antigens; Chromosome Aberrations; Chromosome Disorders; Disorders of Sex Development; Genetics, Medical; Humans; Male; Testis

Topics: 17-Ketosteroids; Adolescent; Cell Biology; Child; Chromosome Aberrations; Chromosome Disorders; Cytogenetic Analysis; Disorders of Sex Development; Female; Genitalia; Humans; Hypospadias; Infant; Infant, Newborn; Male; Mosaicism; Ovary; Ovotesticular Disorders of Sex Development; Pathology; Sex Chromatin; Testis; Urine

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenocorticotropic Hormone; Androgen-Insensitivity Syndrome; Androgens; Blood; Carbon Isotopes; Castration; Chorionic Gonadotropin; Disorders of Sex Development; Gonadotropins; Humans; Leydig Cells; Male; Sertoli Cells; Testis; Testosterone; Urine

Topics: 17-Ketosteroids; Adolescent; Androgen-Insensitivity Syndrome; Chromosomes; Cytogenetic Analysis; Diagnosis; Disorders of Sex Development; Female; Genetics, Medical; Histology; Humans; Male; Pathology; Sex Chromatin; Surgical Procedures, Operative; Testis; Urine; Vulva

Topics: 17-Ketosteroids; Adolescent; Chemical Phenomena; Chemistry; Chromosome Aberrations; Chromosome Disorders; Disorders of Sex Development; Gonadotropins; Humans; Pathology; Sex Chromatin; Turner Syndrome

Topics: 17-Ketosteroids; Chemistry Techniques, Analytical; Chorionic Gonadotropin; Chromatography; Dehydroepiandrosterone; Dexamethasone; Disorders of Sex Development; Female; Follicle Stimulating Hormone; Humans; In Vitro Techniques; Male; Pregnenolone; Progesterone; Subcellular Fractions; Testis; Testosterone; Urine

Topics: 17-Ketosteroids; Adolescent; Androsterone; Castration; Child; Child, Preschool; Chromosomes; Dehydroepiandrosterone; Disorders of Sex Development; Etiocholanolone; Humans; Male

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; Adolescent; Adult; Disorders of Sex Development; Estrogens; Humans

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adult; Chromosomes; Disorders of Sex Development; Estrogens; Female; Gonads; Humans; Male; Testis; Vagina

Topics: 17-Ketosteroids; Adolescent; Adrenal Cortex Hormones; Androgen-Insensitivity Syndrome; Disorders of Sex Development; Estrogens; Female; Humans; Infant; Male; Progesterone; Sex Chromatin; Testis; Thyroid Function Tests; Vaginal Smears

Topics: 17-Ketosteroids; Adrenal Gland Neoplasms; Adrenalectomy; Adrenocortical Hyperfunction; Adrenocorticotropic Hormone; Corticosterone; Cushing Syndrome; Dexamethasone; Disorders of Sex Development; Glucose Tolerance Test; Humans; Surgical Procedures, Operative; Urine

Topics: 17-Ketosteroids; Adenocarcinoma; Adrenogenital Syndrome; Androgens; Cortisone; Disorders of Sex Development; Estrogens; Female; Humans; Hypertrichosis; Hypogonadism; Hysterectomy; Iatrogenic Disease; North Carolina; Ovarian Neoplasms; Pituitary-Adrenal Function Tests; Progesterone; Urine

Topics: 17-Ketosteroids; Adolescent; Androgen-Insensitivity Syndrome; Child; Disorders of Sex Development; Estradiol Congeners; Estrogens; Gonadotropins; Humans; Intelligence Tests; Male; Sex Chromatin; Urine

Topics: 17-Ketosteroids; 46, XX Disorders of Sex Development; Disorders of Sex Development; Female; Genitalia, Female; Humans; Hypertension; Male; Urethra; Urine

Topics: 17-Ketosteroids; Cysts; Disorders of Sex Development; Female; Gynecology; Humans; Infertility; Infertility, Female; Menstruation Disturbances; Ovary; Polycystic Ovary Syndrome; Surgical Procedures, Operative; Urine

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; Child; Cryptorchidism; Disorder of Sex Development, 46,XY; Disorders of Sex Development; Gonadotropins; Humans; Male; Pathology; Pregnanediol; Steroids; Surgical Procedures, Operative; Urine

Topics: 17-Ketosteroids; Adolescent; Animals; Child; Congenital Abnormalities; Diagnosis; Disorders of Sex Development; Endocrinology; Fallopian Tubes; Female; Genitalia; Gynecology; Humans; Infant; Infant, Newborn; Male; Ovary; Physiology; Sex Chromatin; Surgical Procedures, Operative; Testis; Uterus

Topics: 17-Ketosteroids; Androgen-Insensitivity Syndrome; Disorders of Sex Development; Humans; Male

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 Cortex Diseases; Chromatography; Cortisone; Disorders of Sex Development; Steroids; Urine

Topics: 17-Ketosteroids; Body Fluids; Disorders of Sex Development; Female; Humans; Steroids; Urine; Virilism

Topics: 17-Ketosteroids; Cortisone; Disorders of Sex Development; Hirsutism; Humans; Steroids

Topics: 17-Ketosteroids; Adrenal Cortex Neoplasms; Adrenal Gland Neoplasms; Adrenal Glands; Disorders of Sex Development; Humans; Neoplasms

Topics: 17-Ketosteroids; Adrenal Glands; Biological Transport; Body Fluids; Disorder of Sex Development, 46,XY; Disorders of Sex Development; Humans