Normal gestation and diminished androgen responsiveness in an untreated patient with 21-hydroxylase deficiency.
A 22-year-old woman with 21-hydroxylase deficiency but minimal clinical evidence of androgenization was studied. She had conceived twice and had borne a normal male infant without therapy of any kind. The diagnosis of 21-hydroxylase deficiency was substantiated by the findings of 17-ketosteroid and pregnanetriol excretions of 18.1 and 8.1 mg/24 hours, respectively. Adequate basal compensation was indicated by a fasting plasma cortisol of 17.5 mug/dl. Plasma ACTH (207 pg/ml), testosterone (216 ng/dl) delta4-androstenedione (649 mg/dl), progesterone (249 ng/dl) and 17alpha-hydroxyprogesterone (4820 ng/dl) were all significantly elevated.
D000312:Adrenal Hyperplasia, Congenital / Q000097:blood; D000324:Adrenocorticotropic Hormone / Q000097:blood / Q000494:pharmacology; D000328:Adult; D000728:Androgens / Q000097:blood*; D001665:Binding Sites / Q000187:drug effects; D003907:Dexamethasone / Q000494:pharmacology; D013196:Dihydrotestosterone / Q000097:blood; D004967:Estrogens / Q000494:pharmacology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007247:Infertility, Female / Q000097:blood; D008297:Male; D010298:Parity; D011247:Pregnancy; D011956:Receptors, Cell Surface / Q000187:drug effects; D013250:Steroid Hydroxylases / Q000172:deficiency*; D013739:Testosterone / Q000097:blood; D014770:Virilism / Q000097:blood
D000728:Androgens; D004967:Estrogens; D011956:Receptors, Cell Surface; D013196:Dihydrotestosterone; D013739:Testosterone; D003907:Dexamethasone; D000324:Adrenocorticotropic Hormone; D013250:Steroid Hydroxylases