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. |
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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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