Diagnosis of 5α-Reductase 2 Deficiency: Is Measurement of Dihydrotestosterone Essential? | Zendy

Angel On Kei Chan | Zendy; Betty Wai Man But | Zendy; Ching Yin Lee | Zendy; Yuen Yu Lam | Zendy; Kwok Leung Ng | Zendy; Joanna Yuetling Tung | Zendy; Elaine Yin Wah Kwan | Zendy; Yuk Kit Chan | Zendy; Teresa Kam Chi Tsui | Zendy; Almen Lam | Zendy; Wing Yee Tse | Zendy; Pik To Cheung | Zendy; Chi Chung Shek | Zendy

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Diagnosis of 5α-Reductase 2 Deficiency: Is Measurement of Dihydrotestosterone Essential?

Author(s) -

Angel On Kei Chan,

Betty Wai Man But,

Ching Yin Lee,

Yuen Yu Lam,

Kwok Leung Ng,

Joanna Yuetling Tung,

Elaine Yin Wah Kwan,

Yuk Kit Chan,

Teresa Kam Chi Tsui,

Almen Lam,

Wing Yee Tse,

Pik To Cheung,

Chi Chung Shek

Publication year - 2013

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2012.196501

Subject(s) - dihydrotestosterone , disorders of sex development , medicine , endocrinology , gastroenterology , biology , gynecology , androgen , hormone

5α-Reductase 2 deficiency (5ARD) is a known cause of 46,XY disorders of sex development (DSD). Traditionally, the diagnosis relies on dihydrotestosterone (DHT) measurement, but the results are often equivocal, potentially leading to misdiagnosis. We reviewed alternative approaches for diagnosis of 5ARD.

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