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A case of the rare variant of Klinefelter syndrome 47,XY,i(X)(q10)

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....

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Autores principales: Song, Seung-Hun, Won, Hyung Jae, Yoon, Tae Ki, Cha, Dong Hyun, Shim, Jeong Yun, Shim, Sung Han
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Reproductive Medicine 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3913897/
https://www.ncbi.nlm.nih.gov/pubmed/24505564
http://dx.doi.org/10.5653/cerm.2013.40.4.174
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author Song, Seung-Hun
Won, Hyung Jae
Yoon, Tae Ki
Cha, Dong Hyun
Shim, Jeong Yun
Shim, Sung Han
author_facet Song, Seung-Hun
Won, Hyung Jae
Yoon, Tae Ki
Cha, Dong Hyun
Shim, Jeong Yun
Shim, Sung Han
author_sort Song, Seung-Hun
collection PubMed
description 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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spelling pubmed-39138972014-02-06 A case of the rare variant of Klinefelter syndrome 47,XY,i(X)(q10) Song, Seung-Hun Won, Hyung Jae Yoon, Tae Ki Cha, Dong Hyun Shim, Jeong Yun Shim, Sung Han Clin Exp Reprod Med Case Report 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. The Korean Society for Reproductive Medicine 2013-12 2013-12-31 /pmc/articles/PMC3913897/ /pubmed/24505564 http://dx.doi.org/10.5653/cerm.2013.40.4.174 Text en Copyright © 2013. The Korean Society for Reproductive Medicine http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Song, Seung-Hun
Won, Hyung Jae
Yoon, Tae Ki
Cha, Dong Hyun
Shim, Jeong Yun
Shim, Sung Han
A case of the rare variant of Klinefelter syndrome 47,XY,i(X)(q10)
title A case of the rare variant of Klinefelter syndrome 47,XY,i(X)(q10)
title_full A case of the rare variant of Klinefelter syndrome 47,XY,i(X)(q10)
title_fullStr A case of the rare variant of Klinefelter syndrome 47,XY,i(X)(q10)
title_full_unstemmed A case of the rare variant of Klinefelter syndrome 47,XY,i(X)(q10)
title_short A case of the rare variant of Klinefelter syndrome 47,XY,i(X)(q10)
title_sort case of the rare variant of klinefelter syndrome 47,xy,i(x)(q10)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3913897/
https://www.ncbi.nlm.nih.gov/pubmed/24505564
http://dx.doi.org/10.5653/cerm.2013.40.4.174
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