Congenital adrenal hyperplasia caused by 11 beta-hydroxylase deficiency with onset of symptoms after one spontaneous pregnancy.
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.
D015068:17-Ketosteroids / Q000652:urine; D000311:Adrenal Glands / Q000503:physiopathology; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D000328:Adult; D000728:Androgens / Q000652:urine; D002849:Chromatography, Gas; D002855:Chromatography, Thin Layer; D002940:Circadian Rhythm; D003345:Corticosterone / Q000031:analogs & derivatives / Q000652:urine; D003907:Dexamethasone / Q000627:therapeutic use; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000652:urine; D007247:Infertility, Female / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology; D006899:Mixed Function Oxygenases / Q000172:deficiency*; D011245:Pregnadienes / Q000652:urine; D011247:Pregnancy; D013760:Tetrahydrocortisol / Q000652:urine; D013778:Tetrazolium Salts
D015068:17-Ketosteroids; D000728:Androgens; D011245:Pregnadienes; D013778:Tetrazolium Salts; D013760:Tetrahydrocortisol; D003907:Dexamethasone; D006899:Mixed Function Oxygenases; D003345:Corticosterone; D006854:Hydrocortisone