5-alpha-Reductase deficiency causing male pseudohermaphroditism.
An infant with male pseudohermaphroditism due to deficiency of 5-alpha-reductase is described, the elder of two affected male siblings. These patients, who come from Pakistan, are the first to be described outside America.
D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency*; D002675:Child, Preschool; D013196:Dihydrotestosterone / Q000096:biosynthesis; D012734:Disorders of Sex Development / Q000201:enzymology / Q000209:etiology*; D006801:Humans; D008297:Male; D010088:Oxidoreductases / Q000172:deficiency*
D013196:Dihydrotestosterone; D010088:Oxidoreductases; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase