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Deletion of steroid 5α-reductase 2 gene in male pseudohermaphroditism

✍ Scribed by Andersson, Stefan; Berman, David M.; Jenkins, Elizabeth P.; Russell, David W.

Book ID
109778886
Publisher
Nature Publishing Group
Year
1991
Tongue
English
Weight
429 KB
Volume
354
Category
Article
ISSN
0028-0836

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Conversion of testosterone (T) to dihydrotestosterone (DHT) in genital tissue is catalysed by the enzyme 5a-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,