Approximately one in every 500 to 650 baby boys is born with an extra X chromosome, a variation in their genetic code that until a few years ago was thought to result in infertility in all cases. However, this is no longer the case.
As recently as 10 years ago, all men born with an extra X chromosome—a condition whose classic symptoms are known as Klinefelter syndrome—were thought to be infertile. Now, new research at NewYork-Presbyterian/Weill Cornell, led by Dr. Peter Schlegel, has pioneered a surgical approach—a combination of TESE (testicular sperm extraction) and IVF (in vitro fertilization)—that enables these men to father healthy children approximately 40 percent of the time it is employed.
"Our current research in the laboratory focuses on understanding the mechanism by which the presence of an additional X chromosome affects sperm production and testosterone synthesis in males with Klinefelter syndrome. These critical and unique studies will allow us to provide improved treatment and management recommendations based on solid understanding of underlying pathophysiology," says Dr. Darius A. Paduch, assistant professor of urology and reproductive medicine at Weill Cornell Medical College and assistant attending urologist at NewYork-Presbyterian/Weill Cornell.
Most individuals have a total of 46 chromosomes. Commonly, men have one X and one Y chromosome; and women have two X chromosomes. But this is not true for everyone. The most common variation is 47XXY in boys and Trisomy X in girls. Without proper interventions, boys born with an extra X chromosome are at a significantly heightened risk of developing the signs and symptoms of Klinefelter syndrome as adults. Unlike other genetic syndromes such as Down's or Fragile X, comparatively little is known about X and Y chromosome variations.
Dr. Paduch, who leads NewYork-Presbyterian/Weill Cornell's translational research into the molecular biology and genetics of 47XXY and Klinefelter syndrome, has assembled a diverse group of scientists from Cornell-Ithaca and Rockefeller University to create a center of excellence in research on Klinefelter syndrome.
This information was presented at arecent conference hosted by NewYork-Presbyterian Hospital/Weill Cornell Medical Center and advocacy organization KS&A focused on raising awareness of the condition and the recent availability of treatments for both children and adults.
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