Archives of Disease in Childhood · 1990 · 43 citations · 7 references
Life SciencesEndocrinologyGeneticsHuman GeneticsReproductive EndocrinologySteroid BiochemistryDisorders Of Sex DevelopmentGonadal HormonesGonadal Steroid HormonesGonadal SteroidogenesisSteroid Metabolism DisordersTesticular Function5 Alpha-reductase5-Alpha-reductase DeficiencyAndrogen Biosynthesis DefectsDisorders Of Androgen BiosynthesisEnzyme Deficiency In SteroidogenesisPenoscrotal ConditionsSteroidogenic DefectsSteroidogenic Enzyme Defects
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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