Male pseudohermaphroditism with hypertension due to a 17alpha-hydroxylation deficiency.
A case of male pseudohermaphroditism aged 48 years with systemic hypertension and hypokalaemic alkalosis is described. Results of metabolic studies point to a 17alpha-hydroxylase deficiency demonstrated by low cortisol (0-56 mg/24 h), high corticosterone (270 mg/24 h) and 11-deoxycorticosterone (5 mg/24 h) secretion rates. Adrenocorticotrophin and gonadotrophin levels were markedly raised but plasma androstenedione (3 ng/dl), testosterone (17 ng/dl), oestrone (3 ng/dl) and oestradiol(1-8 ng/dl) were all low. Plasma aldosterone levels and secretion rates in urine were low and were surprisingly unaffected by dexamethasone therapy although low renin levels rose with a marked return of the erect posture effect. Therapeutic levels of dexamethasone were, however, followed by incipient renal failure.
D058186:Acute Kidney Injury / Q000139:chemically induced; D000324:Adrenocorticotropic Hormone / Q000097:blood; D000471:Alkalosis; D000735:Androstenedione / Q000097:blood; D003345:Corticosterone / Q000378:metabolism; D003900:Desoxycorticosterone / Q000378:metabolism; D003907:Dexamethasone / Q000009:adverse effects / Q000627:therapeutic use; D012734:Disorders of Sex Development / Q000188:drug therapy / Q000209:etiology* / Q000378:metabolism; D005260:Female; D006062:Gonadotropins / Q000097:blood; D006801:Humans; D006854:Hydrocortisone / Q000378:metabolism; D006973:Hypertension / Q000201:enzymology / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D013250:Steroid Hydroxylases / Q000172:deficiency*; D013737:Testis / Q000166:cytology; D013739:Testosterone / Q000097:blood
D006062:Gonadotropins; D013739:Testosterone; D000735:Androstenedione; D003900:Desoxycorticosterone; D003907:Dexamethasone; D000324:Adrenocorticotropic Hormone; D013250:Steroid Hydroxylases; D003345:Corticosterone; D006854:Hydrocortisone