[Late diagnosis hyperandrogenism due to adrenal enzyme deficiency (author's transl)].
Six women aged from 17 to 30 years (mean: 21 years) were referred on account disorders which had begun at puberty and had been present for 3 to 15 years. The reasons for consulting were hirsutism in 5 cases and sterility in one. The patients' height (1.61 to 1.70 m; mean: 1.64 m) and weight (54 to 70 kg; mean: 59 kg) were normal. Three women menstruated regularly and 3 had anovular spaniomenorrhaea. Hirsutism with enlargement of the clitoris (Prader's stage I) was apparent in all six cases. Three patients had permanent, though moderate hypertension. The biochemical changes essential to the diagnosis were as follows: 1) in 2 women with 21-hydroxalyse deficiency there was a rise in cortisol precursors (plasma 17-OH progesterone and its urinary metabolite, pregnanetriol). In 4 women with 11-hydroxylase deficiency urinary 17-OH corticosteroids were increased; two had high desoxycorticol levels. A rise in plasma desoxycortisol/cortisol ration under tetracosactrin stimulation is of considerable diagnostic value; 2) plasma androgens (testosterone, delta 4 androstenedione) and their urinary metabolites (17-ketosteroids) were increased; 3) all abnormalities disappeared when the adrenal function was suppressed. Under dexamethasone treatment hirsutism became stabilized or even regressed, blood pressure values rapidly returned to normal, menstrual disorders disappeared and ovular cycles were established. Three women became pregnant and delivered on term.
D000293:Adolescent; D000311:Adrenal Glands / Q000201:enzymology*; D000312:Adrenal Hyperplasia, Congenital; D000328:Adult; D000728:Androgens / Q000032:analysis; D002648:Child; D003907:Dexamethasone / Q000627:therapeutic use; D005260:Female; D005938:Glucocorticoids / Q000032:analysis; D006801:Humans; D011247:Pregnancy; D011627:Puberty; D013250:Steroid Hydroxylases / Q000172:deficiency*; D014770:Virilism / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*
D000728:Androgens; D005938:Glucocorticoids; D003907:Dexamethasone; D013250:Steroid Hydroxylases
Hyperandrogénie par déficit enzymatique surrénalien à révélation tardive post-pubertaire.