5 alpha-reductase deficiency without hypospadias.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 2248513.
- Also identified by PMC identifier 1792348.
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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.
Medical subject headings
- 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
- Hypospadias
- Penis