A case of male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency

A case of male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency is described. A 24-year-old woman with a quadriplegic attack exhibited primary amenorrhea, lack of secondary sexual characteristics, hypertension, hypokalemic alkalosis and hyporeninemia. She had female external genitalia together with a 46 XY karyotype and intraabdominal testes. No uterus was found. Endocrinological studies showed low levels of urinary pregnanetriol, plasma cortisol and urinary 17-OHCS, high level of urinary pregnanediol, and markedly elevated plasma levels of deoxycorticosterone, corticosterone and 18-hydroxycorticosterone with a low level of plasma and urinary aldosterone. Plasma ACTH was high. Plasma and urinary androgens and estrogens were low in the presence of a high level of plasma and urinary gonadotropins. Treatment with 2-0.5 mg/day of dexamethasone improved the abnormal plasma levels of the corticosteroids and normalized the blood pressure, serum potassium and PRA. The addition of estrogen (ethinylestradiol, 0.05 mg daily) to dexamethasone treatment produced only poor development of the breasts six months later.