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KMID : 0358420070500030550
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Korean Journal of Obstetrics and Gynecology
2007 Volume.50 No. 3 p.550 ~ p.554
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A case of 5 alpha reductase deficiency
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Jang Min-Jeong
Oh Su-Young
Choi Seong-Eun
Oh Hoon-Kyu
Kim Duk-Yoon
Choi Youn-Seok
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Abstract
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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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KEYWORD
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5α-reductase deficiency, Male pseudohermaphroditism
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