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Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism.

Fertility and sterility - 1 Nov 2008

Sahakitrungruang Taninee, Wacharasindhu Suttipong, Yeetong Patra, Snabboon Thiti, Suphapeetiporn Kanya, Shotelersuk Vorasuk

Abstract excerpt

OBJECTIVE: To describe two unrelated Thai patients with suspected 5alpha-reductase type 2 deficiency and perform mutation analysis of the SRD5A2 gene. DESIGN: Case report. SETTING: A pediatric endocrinology clinic at a university hospital. PATIENT(S): Two unrelated patients with 46,XY karyotype, born with ambiguous genitalia, were studied. One was reared as a boy and the other was reared as a girl....

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PMID: 18314109
DOI: 10.1016/j.fertnstert.2008.01.019

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