5 alpha-reductase deficiency without hypospadias.
A boy aged 4 with penoscrotal hypospadias and his brother aged 12 with micropenis had typical changes of homozygous 5 alpha-reductase deficiency. After three injections of chorionic gonadotrophin there was a trivial rise in plasma dihydrotestosterone with a normal increase in plasma testosterone. Urine steroid chromatography showed abnormally high 5 beta: 5 alpha ratios and 5 alpha-reductase activity was appreciably reduced in genital skin fibroblasts. The results indicate that 5 alpha-reductase deficiency is not invariably associated with genital ambiguity.
Ng
W K
WK
Hospital for Sick Children, London.
Taylor
N F
NF
Hughes
I A
IA
Taylor
J
J
Ransley
P G
PG
Grant
D B
DB
D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D006063:Chorionic Gonadotropin / Q000627:therapeutic use; D013196:Dihydrotestosterone / Q000378:metabolism; D006801:Humans; D007021:Hypospadias / Q000209:etiology*; D007536:Isomerism; D008297:Male; D010413:Penis / Q000002:abnormalities*; D012867:Skin / Q000201:enzymology; D013739:Testosterone / Q000378:metabolism; D013760:Tetrahydrocortisol / Q000031:analogs & derivatives / Q000652:urine
D006063:Chorionic Gonadotropin; D013196:Dihydrotestosterone; C006461:allotetrahydrocortisol; D013739:Testosterone; D013760:Tetrahydrocortisol; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase