Article
Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency.
American journal of medical genetics - 3 May 1996
Sinnecker G H, Hiort O, Dibbelt L, Albers N, Dörr H G, Hauss H, Heinrich U, Hemminghaus M, Hoepffner W, Holder M, Schnabel D, Kruse K
Abstract excerpt
Conversion of testosterone (T) to dihydrotestosterone (DHT) in genital tissue is catalysed by the enzyme 5 alpha-reductase 2, which is encoded by the SRD5A2 gene. The potent androgen DHT is required for full masculinization of the external genitalia. Mutations of the SRD5A2 gene inhibit enzyme activity, diminish DHT formation, and hence cause masculinization defects of varying degree. The classical syndrome,...
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