17-ketosteroid reductase deficiency in an adult patient without gynaecomastia but with female psychosexual orientation.
A 24 years old male with pseudohermaphroditism due to a deficiency in 17-ketosteroid reductase activity is described. Plasma delta 4 is 21 times higher than normal for an adult male, delta 4/T is greater than 6, both E1 and F2 are elevated and E1/E2 = 3. There is very slight modification of delta 4 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 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.
D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000328:Adult; D000735:Androstenedione / Q000097:blood; D002369:Castration; D003687:Dehydroepiandrosterone / Q000097:blood; D012734:Disorders of Sex Development / Q000201:enzymology*; D004970:Estrone / Q000097:blood; D005640:Follicle Stimulating Hormone / Q000097:blood; D006177:Gynecomastia / Q000201:enzymology*; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000187:drug effects; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D011374:Progesterone / Q000097:blood; D013737:Testis / Q000187:drug effects; D013739:Testosterone / Q000097:blood; D013972:Thyrotropin / Q000097:blood
D004970:Estrone; D013739:Testosterone; D000735:Androstenedione; D003687:Dehydroepiandrosterone; D011374:Progesterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013972:Thyrotropin; D015067:17-Hydroxysteroid Dehydrogenases