17-ketosteroid reductase deficiency in an adult patient without gynaecomastia but with female psychosexual orientation

Abstract

A 24 yr old male with pseudohermaphroditism due to a deficiency in 17-ketosteroid reductase activity is described. Plasma .DELTA.4 [androstenedione] is 21 times higher than normal for an adult male, .DELTA.4/T [testosterone] is greater than 6, both E1 [estrone] and E2 [estradiol] are elevated and E1/E2 = 3. There is very slight modification of .DELTA.4 on administration of ACTH, dexamethasone, hCG [human chorionic gonadotropin] and fluoxymesterone. Steroid concentrations in the spermatic veins and arteries confirm the testicular origin of the increased secretion of .DELTA.4 and E1 and show a lower secretion by the cryptorchidic testis. In vitro testicular tissue incubation and fibroblast studies confirm the 17-ketosteroid reductase deficiency and rule out any other anomaly as the cause of the ambiguous genitalia. Psychologically the patient seemed to be identified with a female social and sexual role in spite of her advanced degree of virilization.