Male pseudohermaphroditism due to 17-ketoreductase deficiency: report of a case without gynecomastia and without vaginal pouch.
A black adult subject, exhibiting complete virilization at puberty with psychological female orientation, was investigated. An older sister had similar physical habitus. Hormonal data showed an androstenedione/testosterone ratio greater than 1. This led us to the diagnosis of 17-ketoreductase deficiency, with possible genetic transmission of the defect.
D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000324:Adrenocorticotropic Hormone; D000328:Adult; D006063:Chorionic Gonadotropin; D012734:Disorders of Sex Development / Q000201:enzymology* / Q000235:genetics / Q000601:surgery; D005260:Female; D006177:Gynecomastia / Q000473:pathology; D006728:Hormones / Q000097:blood; D006801:Humans; D008297:Male; D014621:Vagina / Q000002:abnormalities
D006063:Chorionic Gonadotropin; D006728:Hormones; D000324:Adrenocorticotropic Hormone; D015067:17-Hydroxysteroid Dehydrogenases