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

Abstract

Abstract1 A 24 years old male with pseudohermaphroditism due to a deficiency in 17-ketosteroid reductase activity is described. Plasma Δ4 is 21 times higher than normal for an adult male, Δ4/T is greater than 6, both E1 and E2 are elevated and E1/E2 = 3. There is very slight modification of Δ4 on administration of ACTH, dexamethasone, hCG and fluoxymesterone. Steroid concentrations in the spermatic veins and arteries confirm the testicular origin of the increased secretion of Δ4 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.