Studies examine infertility related to extra X chromosome

Anew surgical approach enables men with Klinefelter syndrome to father healthy children approximately 40% of the time, according to a December 19, 2007, news release from New York-Presbyterian Hospital/Weill Cornell Medical Center, New York. Approximately one in every 500 to 650 baby boys is born with an extra X chromosome--a condition whose classic symptoms are known as Klinefelter syndrome. As recently as 10 years ago, this variation in genetic code was thought to result in infertility in all cases. The new surgical approach combines testicular sperm extraction and in vitro fertilization.

Unlike other genetic syndromes, such as Down's syndrome or fragile X syndrome, comparatively little is known about X and Y chromosome variations. Additional research is being conducted to examine the mechanism by which an additional X chromosome affects sperm production and testosterone synthesis. A solid understanding of the underlying pathophysiology could result in improved treatment and management recommendations for patients of all ages.

Physician-scientists seek solutions to reproductive problems related to chromosomal variations [news release]. New York, NY: New York-Presbyterian Hospital/Weill Cornell Medical Center; December 29, 2007.

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