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5 alpha-reductase deficiency without hypospadias.
  1. W K Ng,
  2. N F Taylor,
  3. I A Hughes,
  4. J Taylor,
  5. P G Ransley,
  6. D B Grant
  1. Hospital for Sick Children, London.


    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.

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