| Literature DB >> 2248513 |
W K Ng1, N F Taylor, I A Hughes, J Taylor, P G Ransley, D B Grant.
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.Entities:
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Year: 1990 PMID: 2248513 PMCID: PMC1792348 DOI: 10.1136/adc.65.10.1166
Source DB: PubMed Journal: Arch Dis Child ISSN: 0003-9888 Impact factor: 3.791