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KMID : 1033620130400040174
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Clinical and Experimental Reproductive Medicine
2013 Volume.40 No. 4 p.174 ~ p.176
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A case of the rare variant of Klinefelter syndrome 47,XY,i(X)(q10)
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Song Seung-Hun
Won Hyung-Jae
Yoon Tae-Ki
Cha Dong-Hyun
Shim Jeong-Yun
Shim Sung-Han
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Abstract
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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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KEYWORD
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Klinefelter syndrome, Isochromsomes, Androgens
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