[Familial case of male pseudohermaphroditism due to 17-ketoreductase defect: late diagnosis in the "aunt" of a patient with the same defect (author's transl)].

A 42 year old (46 XY) subject with 17-ketosteroid reductase deficiency was investigated. The patient reared as female, has developed masculine features (facial hair, male distribution of body hair, male body habitus, acne and clitoridomegaly) at about 15 years of age but never consulted. She married at 22 years and for 20 years thought to have a "normal" female sex life. Only when her 14 year old "niece" was investigated (1) and treated for similar problems she realized hers. She had a small phallus with perineal urethra, vaginal pouch absence of labia minora and undescended testis, no breast development. Baseline peripheral studies showed plasma testosterone (T) in the range of Tanner II stade of puberty (150 ng/dl), elevated delta 4-androstenedione (delta 4) (930 ng/dl) and estrone (E1) (33,5 NG/DL) LEVELS 6--8 times above normal, but subnormal estradiol levels. Increased basal gonadotropins showed an hyper-response to LHRH stimulation. Dynamic tests (ACTH test, Dexamethasone suppression, and hCG stimulation) showed that abnormal delta 4 and E1 were not of adrenal origin. In the spermatic veins delta 4 levels were extremely high (239 micrograms/dl) but T levels low (11.4 micrograms/dl). delta 4/T ratio in the spermatic vein was much higher than in the peripheral blood suggesting intact peripheral conversion of delta 4 to T. After castration all hormone levels returned to the range usually seen in agonadic male or female adults.