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.
Written by:
Maiburg M, Repping S, Giltay J. Are you the author?
Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Reference: Fertil Steril. 2012 Aug;98(2):253-60.
doi: 10.1016/j.fertnstert.2012.06.019
PubMed Abstract
PMID: 22749222
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