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.

Vol 98, Issue 2, Pages 253-260


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.

Read the full text at: