Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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A Case of a 46,XX Male with SRY Gene

SRY 유전자를 가진 46,XX 남성 1례

  • Min, Jeong-Yong (Hamchoon Institute of Fertility & Genetics, Hamchoon Women's Clinic) ;
  • Lee, Dong-Suk (Hamchoon Institute of Fertility & Genetics, Hamchoon Women's Clinic) ;
  • Cho, Soo-Kyung (Hamchoon Institute of Fertility & Genetics, Hamchoon Women's Clinic) ;
  • Park, So-Hyun (Hamchoon Institute of Fertility & Genetics, Hamchoon Women's Clinic) ;
  • Lee, Soo-Min (Hamchoon Institute of Fertility & Genetics, Hamchoon Women's Clinic) ;
  • Baek, Min-Kyung (Hamchoon Institute of Fertility & Genetics, Hamchoon Women's Clinic) ;
  • Kim, Ki-Chul (Hamchoon Institute of Fertility & Genetics, Hamchoon Women's Clinic) ;
  • Hwang, Do-Yeong (Hamchoon Institute of Fertility & Genetics, Hamchoon Women's Clinic)
  • 민정용 (함춘여성크리닉 불임유전연구소) ;
  • 이동숙 (함춘여성크리닉 불임유전연구소) ;
  • 조수경 (함춘여성크리닉 불임유전연구소) ;
  • 박소현 (함춘여성크리닉 불임유전연구소) ;
  • 이수민 (함춘여성크리닉 불임유전연구소) ;
  • 백민경 (함춘여성크리닉 불임유전연구소) ;
  • 김기철 (함춘여성크리닉 불임유전연구소) ;
  • 황도영 (함춘여성크리닉 불임유전연구소)
  • Received : 2008.10.31
  • Accepted : 2008.12.20
  • Published : 2008.12.01
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Abstract

46,XX male is a rare sex constitution characterized by the development of bilateral testis in persons who lack a Y chromosome. Manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia, and hyalinations of seminiferous tubules. The incidence of XX male reversal is approximately 1 in 20,000 male neonates. The SRYgene is located at the short arm of the Y chromosome(Yp11.31) and codes for testis determining factor in humans. Here, the patient, who presented with a normal male phenotype, was referred for azoospermia. Conventional cytogenetic analysis showed a 46,XX karyotype. Quantitative fluorescent polymerase chain reaction(QF-PCR) and Multiplex PCR studies identified SRY gene. And, Fluorescence In Situ Hybridization(FISH) confirmed the SRY gene on the distal short arm of chromosome X. We identified the SRY gene on the distal short arm of chromosome X by molecular cytogenetic and molecular analyses. Therefore, molecular-cytogenetics and molecular studies were proved to be clinically useful adjunctive tool to conventional prenatal cytogenetic analysis.

46,XX 남성은 여성의 핵형을 가지나, 남성의 표현형을 나타내는 경우를 말한다. SRY 유전자는 Y 염색체(Yp 11.31)의 단완에 위치하며 인간에서 성을 결정하는 중요한 요인이다. 본 증례는 무정자증의 임상증상이 보이는 46,XX 남성의 정확한 원인분석을 위해 말초혈액분석에서 세포유전학적인 방법과 분자유전학적인 방법을 함께 병행한 보고이다. 남성 표현형과 비교하여 성에 불일치 소견이 보여, 그 원인을 찾기 위해 QF-PCR, FISH와 Multiplex PCR 분석 등의 분자유전학적 방법을 적용하였다. 그 결과, 여성의 성 염색체 XX를 가지되 SRY 유전자가 존재하여 남성 표현형을 보이면서 무정자증이 된 경우이다. 따라서, 일반적인 세포유전학 방법을 기초로 QF-PCR, FISH와 Multiplex PCR 분석 등과 같은 분자유전학적 방법을 병행하면 환자의 정보를 빠르고 정확하게 제공하는데 효과적이고 유용하다.

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