Men born with an extra X chromosome - a condition know as Klinefelter syndrome - were thought to be infertile but a pioneering technique developed at NewYork-Presbyterian Hospital/Weill Cornell Medical Center means they may now be able to father children. The condition affects around 600 infant boys every year.
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.
Led by Dr. Peter Schlegel, the team behind the breakthrough has pioneered a surgical approach — a combination of TESE (testicular sperm extraction) and IVF (in vitro fertilization) — that enables sufferers to father healthy children approximately 40 percent of the time it is employed.
But Schlegel says that this is just the beginning. "Our Department has five scientists who are leading research into Klinefelter's and other chromosomal variations. 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. These critical and unique studies will allow us to provide improved treatment."
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Source: Weill Cornell Medical Center
