The genetic origin of Klinefelter syndrome and its effect on spermatogenesis

Merel Maiburg; Sjoerd Repping; Jacques Giltay

doi:https://doi.org/10.1016/j.fertnstert.2012.06.019

The genetic origin of Klinefelter syndrome and its effect on spermatogenesis

Merel Maiburg, Sjoerd Repping, Jacques Giltay

Research output: Contribution to journal › Article › Academic › peer-review

69 Citations (Scopus)

Abstract

Klinefelter syndrome is the most prevalent chromosome abnormality and genetic cause of azoospermia in males. The availability of assisted reproductive technology (ART) has allowed men with Klinefelter syndrome to father their own genetic offspring. When providing ART to men with Klinefelter syndrome, it is important to be able to counsel them properly on both the chance of finding sperm and the potential effects on their offspring. The aim of this review is twofold: [1] to describe the genetic etiology of Klinefelter syndrome and [2] to describe how spermatogenesis occurs in men with Klinefelter syndrome and the consequences this has for children born from men with Klinefelter syndrome. (Fertil Steril (R) 2012;98:253-60. (C) 2012 by American Society for Reproductive Medicine.)

Original language	English
Pages (from-to)	253-260
Journal	Fertility and Sterility
Volume	98
Issue number	2
DOIs	https://doi.org/10.1016/j.fertnstert.2012.06.019
Publication status	Published - 2012

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https://doi.org/10.1016/j.fertnstert.2012.06.019

Cite this

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title = "The genetic origin of Klinefelter syndrome and its effect on spermatogenesis",

abstract = "Klinefelter syndrome is the most prevalent chromosome abnormality and genetic cause of azoospermia in males. The availability of assisted reproductive technology (ART) has allowed men with Klinefelter syndrome to father their own genetic offspring. When providing ART to men with Klinefelter syndrome, it is important to be able to counsel them properly on both the chance of finding sperm and the potential effects on their offspring. The aim of this review is twofold: [1] to describe the genetic etiology of Klinefelter syndrome and [2] to describe how spermatogenesis occurs in men with Klinefelter syndrome and the consequences this has for children born from men with Klinefelter syndrome. (Fertil Steril (R) 2012;98:253-60. (C) 2012 by American Society for Reproductive Medicine.)",

author = "Merel Maiburg and Sjoerd Repping and Jacques Giltay",

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T1 - The genetic origin of Klinefelter syndrome and its effect on spermatogenesis

AU - Maiburg, Merel

AU - Repping, Sjoerd

AU - Giltay, Jacques

PY - 2012

Y1 - 2012

N2 - Klinefelter syndrome is the most prevalent chromosome abnormality and genetic cause of azoospermia in males. The availability of assisted reproductive technology (ART) has allowed men with Klinefelter syndrome to father their own genetic offspring. When providing ART to men with Klinefelter syndrome, it is important to be able to counsel them properly on both the chance of finding sperm and the potential effects on their offspring. The aim of this review is twofold: [1] to describe the genetic etiology of Klinefelter syndrome and [2] to describe how spermatogenesis occurs in men with Klinefelter syndrome and the consequences this has for children born from men with Klinefelter syndrome. (Fertil Steril (R) 2012;98:253-60. (C) 2012 by American Society for Reproductive Medicine.)

AB - Klinefelter syndrome is the most prevalent chromosome abnormality and genetic cause of azoospermia in males. The availability of assisted reproductive technology (ART) has allowed men with Klinefelter syndrome to father their own genetic offspring. When providing ART to men with Klinefelter syndrome, it is important to be able to counsel them properly on both the chance of finding sperm and the potential effects on their offspring. The aim of this review is twofold: [1] to describe the genetic etiology of Klinefelter syndrome and [2] to describe how spermatogenesis occurs in men with Klinefelter syndrome and the consequences this has for children born from men with Klinefelter syndrome. (Fertil Steril (R) 2012;98:253-60. (C) 2012 by American Society for Reproductive Medicine.)

U2 - https://doi.org/10.1016/j.fertnstert.2012.06.019

DO - https://doi.org/10.1016/j.fertnstert.2012.06.019

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C2 - 22749222

SN - 0015-0282

VL - 98

SP - 253

EP - 260

JO - Fertility and Sterility

JF - Fertility and Sterility

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