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.

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Authors

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

Vol 98, Issue 2, Pages 253-260

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 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: http://www.fertstert.org/article/S0015-0282(12)00654-1/fulltext


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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

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