Clin Exp Reprod Med.
2013 Dec;40(4):174-176. 10.5653/cerm.2013.40.4.174.
A case of the rare variant of Klinefelter syndrome 47,XY,i(X)(q10)
- Affiliations
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- 1Department of Urology, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea.
- 2Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea.
- 3Department of Pathology, CHA Gangnam Medical Center, CHA University, Seoul, Korea.
- 4Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea. shshim@cha.ac.kr
- KMID: 2167496
- DOI: http://doi.org/10.5653/cerm.2013.40.4.174
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.
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