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Korean Journal of Obstetrics & Gynecology 2007;50(3):550-554.
Published online March 1, 2007.
A case of 5 alpha reductase deficiency.
Min Jeong Jang, Su Young Oh, Seong Eun Choi, Hoon Kyu Oh, Duk Yoon Kim, Youn Seok Choi
1Department of Obstetrics and Gynecology, College of Medicine, Daegu Catholic University, Daegu, Korea. drcys@cu.ac.kr
2Department of Pathology, College of Medicine, Daegu Catholic University, Daegu, Korea.
3Department of Urology, College of Medicine, Daegu Catholic University, Daegu, Korea.
Abstract
5 alpha-reductase deficiency is a rare autosomal recessive disorder caused by mutations in the SRD5A2-gene, resulting in absent or diminished dihydrotestosterone (DHT) formation and, hence, in an underdevelopment of the external genitalia in patients with 46,XY karyotype. Recently we experienced a 17 years old patient with chief complaint of primary amenorrhea, who showed 46,XY karyotype, enlarged clitoris, virilization, undeveloped breast and palpable bilateral inguinal mass. We diagnosed it as 5 alpha?reductase deficiency and removed the bilateral gonads, so we report it with brief review of literature.
Key Words: 5alpha-reductase deficiency, Male pseudohermaphroditism


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