The genetic origin of Klinefelter syndrome and its effect on spermatogenesis

We performed a literature review of the genetic etiology of Klinefelter syndrome, its effect on spermatogenesis, and the health of children born from men with Klinefelter syndrome following assisted reproductive technology.

Merel Maiburg, M.D., Sjoerd Repping, M.D., Jacques Giltay, M.D., Ph.D.

Volume 98, Issue 2, Pages 253-260, August 2012

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 offspring genetically. 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; (2) to describe how spermatogenesis occurs in men with Klinefelter syndrome and the consequences this has for children born from men with Klinefelter syndrome.

  • rozena

    I found this very interesting as well.

    I am 22 week pregnency from my klinfelter husband.

    we decided not to go throw the amniotic fluid test becouse of its high risk.

    all the other tests came back normal (nuchal translucency, fetoprotein,Obstetric ultrasonography…)

    We are hoping for the best.

    Can any one explane the high risks for a trisomy 18 and 22?….

    Thnk you!

  • Maria Jose De Los Santos

    I found this review very interesting, thank you very much.

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