A case of 5 alpha reductase deficiency.
- Author:
Min Jeong JANG
1
;
Su Young OH
;
Seong Eun CHOI
;
Hoon Kyu OH
;
Duk Yoon KIM
;
Youn Seok CHOI
Author Information
1. Department of Obstetrics and Gynecology, College of Medicine, Daegu Catholic University, Daegu, Korea. drcys@cu.ac.kr
- Publication Type:Case Report
- Keywords:
5alpha-reductase deficiency;
Male pseudohermaphroditism
- MeSH:
46, XY Disorders of Sex Development;
Adolescent;
Amenorrhea;
Breast;
Cholestenone 5 alpha-Reductase*;
Clitoris;
Dihydrotestosterone;
Female;
Genitalia;
Gonads;
Humans;
Karyotype;
Virilism
- From:Korean Journal of Obstetrics and Gynecology
2007;50(3):550-554
- CountryRepublic of Korea
- Language:Korean
-
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.
