title: A case of the rare variant of Klinefelter syndrome 47,XY,i(X)(q10).
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.
authors: Department of Urology, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea.
authors: Seung-Hun
authors: SH
authors: Song
authors: Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea.
authors: Hyung Jae
authors: HJ
authors: Won
authors: Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea.
authors: Tae Ki
authors: TK
authors: Yoon
authors: Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea.
authors: Dong Hyun
authors: DH
authors: Cha
authors: Department of Pathology, CHA Gangnam Medical Center, CHA University, Seoul, Korea.
authors: Jeong Yun
authors: JY
authors: Shim
authors: Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea.
authors: Sung Han
authors: SH
authors: Shim
keywords: Androgens; Isochromsomes; Klinefelter syndrome