title: Absent spermatogenesis despite early bilateral orchidopexy in 17-ketoreductase deficiency.
abstract: We describe a 26-year-old patient with 17-ketoreductase deficiency who was raised as a male from 8 months and whose left testis was brought down at the age of 2.5 years and the right testis at the age of 4. Despite the early orchidopexy and not significantly decreased serum testosterone, he was sterile, and biopsy of the testes at the age of 26 revealed absence of spermatogenesis. This case indicates that the absence of spermatogonia in previously reported patients whose testes remained undescended until a later age could not be attributed solely to cryptorchidism. We suggest that decreased intratesticular testosterone due to steroidogenic defect in the developing testis mainly contributes to the arrest of spermatogenesis.
authors.forename: M
authors.initials: M
authors.lastname: Dumić
authors.forename: V
authors.initials: V
authors.lastname: Plavsić
authors.forename: I
authors.initials: I
authors.lastname: Fattorini
authors.forename: J
authors.initials: J
authors.lastname: Ille
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000324:Adrenocorticotropic Hormone; D000328:Adult; D000735:Androstenedione / Q000097:blood; D006063:Chorionic Gonadotropin; D003456:Cryptorchidism / Q000601:surgery*; D003907:Dexamethasone; D004958:Estradiol / Q000097:blood; D004967:Estrogens / Q000097:blood; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D013091:Spermatogenesis; D013737:Testis / Q000473:pathology; D013739:Testosterone / Q000031:analogs & derivatives / Q000097:blood
chemical_list: D006063:Chorionic Gonadotropin; D004967:Estrogens; D013739:Testosterone; D000735:Androstenedione; D004958:Estradiol; D003907:Dexamethasone; C004648:testosterone enanthate; D000324:Adrenocorticotropic Hormone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D015067:17-Hydroxysteroid Dehydrogenases