17-ketosteroids and Metabolism--Inborn-Errors

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

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

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; 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; 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 Cortex Hormones; Adrenal Gland Diseases; Adult; Amenorrhea; Female; Hirsutism; Humans; Hyperplasia; Metabolism, Inborn Errors; Middle Aged; Mixed Function Oxygenases; Ovarian Cysts; Ovarian Diseases; Ovarian Neoplasms; Polycystic Ovary Syndrome; Pregnanetriol; Testosterone

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Androstanes; Androstenes; Androsterone; Animals; Bile; Bile Acids and Salts; Child; Chromatography, Gas; Chromatography, Thin Layer; Dehydroepiandrosterone; Glucuronates; Humans; Hydroxysteroid Dehydrogenases; Hydroxysteroids; Ketosteroids; Liver; Male; Mass Spectrometry; Metabolism, Inborn Errors; Pregnanes; Pregnenes; Pregnenolone; Sulfuric Acids

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Gland Diseases; Adrenocorticotropic Hormone; Body Height; Child; Child, Preschool; Corticosterone; Dexamethasone; Estrogens; Female; Follicle Stimulating Hormone; Hair; Humans; Hydrocortisone; Hyperplasia; Indicator Dilution Techniques; Karyotyping; Luteinizing Hormone; Male; Metabolism, Inborn Errors; Mixed Function Oxygenases; Ovary; Testosterone; Uterus

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; 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

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Glands; Adrenocorticotropic Hormone; Adult; Androgen-Insensitivity Syndrome; Chorionic Gonadotropin; Estradiol; Estriol; Estrogens; Estrone; Follicle Stimulating Hormone; Gynecomastia; Humans; Leydig Cells; Luteinizing Hormone; Male; Medroxyprogesterone; Metabolism, Inborn Errors; Radioimmunoassay; Testicular Diseases; Testicular Neoplasms; Testis; Testosterone; Veins; Vena Cava, Inferior

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Addison Disease; Adrenal Cortex Hormones; Adrenal Glands; Adrenocorticotropic Hormone; Androgens; Autoimmune Diseases; Autopsy; Brain; Brain Chemistry; Child; Diffuse Cerebral Sclerosis of Schilder; Genes, Recessive; Histiocytes; Humans; Lipids; Lymphocytes; Male; Metabolism, Inborn Errors; Pituitary Gland

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-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; Adult; Chromatography, Gas; Circadian Rhythm; Female; Humans; Male; Metabolism, Inborn Errors; Mixed Function Oxygenases; Steroids

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; 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-Hydroxycorticosteroids; 17-Ketosteroids; Abnormalities, Multiple; Adrenal Gland Neoplasms; Adrenocortical Hyperfunction; Corticosterone; Desoxycorticosterone; Female; Growth Hormone; Humans; Hydrocortisone; Hydroxyprogesterones; Hyperplasia; Hypoglycemia; Infant; Islets of Langerhans; Kidney Diseases; Metabolism, Inborn Errors; Mixed Function Oxygenases; Pregnanediol; Pregnanetriol; Pregnenolone; Vanilmandelic Acid

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

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

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Gland Neoplasms; Adrenalectomy; Chromatography; Dehydroepiandrosterone; Desoxycorticosterone; Dexamethasone; Estradiol; Estriol; Estrogens; Feminization; Follicle Stimulating Hormone; Gonadotropins; Humans; Hydrocortisone; In Vitro Techniques; Luteinizing Hormone; Male; Metabolism, Inborn Errors; Middle Aged; Mixed Function Oxygenases; Nephrectomy; Prednisone; Pregnenolone; Radioimmunoassay; Sex Characteristics; Tritium

Topics: 17-Ketosteroids; Adolescent; Adrenal Glands; Adrenocorticotropic Hormone; Child; Dwarfism; Female; Humans; Hydrocortisone; Male; Metabolism, Inborn Errors; Obesity

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-Ketosteroids; Adrenal Cortex Hormones; Humans; Hydroxysteroid Dehydrogenases; Infant, Newborn; Metabolism, Inborn Errors; Mixed Function Oxygenases; Pregnanes

Topics: 17-Ketosteroids; Adolescent; Adrenal Insufficiency; Aged; Aldosterone; Aminohippuric Acids; Carbon Isotopes; Chlorothiazide; Chromatography, Paper; Desoxycorticosterone; Diagnosis, Differential; Diet Therapy; Female; Glomerular Filtration Rate; Glucocorticoids; Heart Failure; Humans; Hyperkalemia; Inulin; Kidney; Male; Metabolism, Inborn Errors; Middle Aged; Mixed Function Oxygenases; Organomercury Compounds; Potassium; Regional Blood Flow; Sodium; Water-Electrolyte Balance

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; Adolescent; Adrenal Glands; Adult; Blindness; Body Height; Child; Chorionic Gonadotropin; Deafness; Follicle Stimulating Hormone; Growth; Humans; Hypogonadism; Karyotyping; Leydig Cells; Lipoproteins; Male; Metabolism, Inborn Errors; Pedigree; Sex Characteristics; Testis; Testosterone; Triglycerides; Uric Acid

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-Ketosteroids; Adolescent; Adult; Age Factors; Blood Group Antigens; Bone and Bones; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Dental Caries Susceptibility; Dermatoglyphics; Diet, Reducing; Electroencephalography; Electromyography; Female; Glucose Tolerance Test; Humans; Hypothalamus; Infant; Infant, Newborn; Intellectual Disability; Karyotyping; Language Development; Male; Metabolism, Inborn Errors; Obesity; Phenmetrazine; Prediabetic State; Pregnancy; Radiography; Sex Factors

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Androgens; Chorionic Gonadotropin; Dehydroepiandrosterone; Eunuchism; Female; Follicle Stimulating Hormone; Glucuronates; Gynecomastia; Humans; Hydroxysteroid Dehydrogenases; Lactation Disorders; Leydig Cells; Luteinizing Hormone; Male; Metabolism, Inborn Errors; Pituitary Gland; Pregnancy; Testis; Testosterone

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; Adult; Animals; Estradiol; Estrogens; Female; Follow-Up Studies; Goiter; Humans; Iodine Isotopes; Male; Metabolism, Inborn Errors; Mice; Neoplasm Metastasis; Pituitary Neoplasms; Radiography, Thoracic; Rats; Thiouracil; Thyroid Neoplasms; Thyrotropin; Thyroxine; Triiodothyronine

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Cortex Hormones; Adrenocorticotropic Hormone; Aldosterone; Birth Order; Consanguinity; Desoxycorticosterone; Genetics, Medical; Humans; Hyperkalemia; Hyponatremia; Infant; Metabolism, Inborn Errors; Pathology; Sex; Syndrome