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Diagnosis of 5α–reductase 2 deficiency: is measurement of dihydrotestosterone essential?

✍ Scribed by Chan, Angel OK; But, WM; Lee, CY; Lam, YY; Ng, KL; Tung, Joanna; Cheung, PT; Chan, Doris; Tse, WY; Shek, CC

Book ID
121617341
Publisher
BioMed Central
Year
2013
Tongue
English
Weight
336 KB
Volume
2013
Category
Article
ISSN
1687-9848

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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,