Korean J Obstet Gynecol.
2007 Mar;50(3):550-554.
A case of 5 alpha reductase deficiency
- Affiliations
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- 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.
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