Clinical and Experimental Reproductive Medicine

The Korean Society for Reproductive Medicine (대한생식의학회)
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A case of the rare variant of Klinefelter syndrome 47,XY,i(X)(q10)

  • Song, Seung-Hun (Department of Urology, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Won, Hyung Jae (Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Yoon, Tae Ki (Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Cha, Dong Hyun (Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Shim, Jeong Yun (Department of Pathology, CHA Gangnam Medical Center, CHA University) ;
  • Shim, Sung Han (Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University)
  • Received : 2013.09.09
  • Accepted : 2013.11.14
  • Published : 2013.12.31
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Abstract

Klinefelter syndrome is the most common genetic form of male hypogonadism, but the phenotype becomes evident only after puberty. It is characterized by infertility, small testes, sparse body and facial hair, increased body weight, gynecomastia, increased LH and FSH, and a low level of testosterone. Early recognition and treatment of Klinefelter syndrome can significantly improve the patient's quality of life and prevent serious consequences. Here, we report an infertile man with a rare variant of Klinefelter syndrome with a 47, XY, i(X)(q10) karyotype.

Keywords

References

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