5 alpha-reductase deficiency without hypospadias. Issue 10 (October 1990)

• Record Type: Journal Article
• Authors: Ng, W K; Taylor, N F; Hughes, I A; Taylor, J; Ransley, P G; Grant, D B
• Is Part Of: Archives of disease in childhood. Volume 65:Issue 10(1990)
• Page Start: 1166
• Page End: 1167
• Publication Date: 1990-10
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.65.10.1166
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : 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.