Physician-Scientists Seek Solutions to Reproductive Problems Related to Chromosomal Variations
NewYork-Presbyterian Hospital/Weill Cornell Medical Center and KS&A Join Forces to Spread Awareness of Condition<br /><br />One in 500 Babies Has Variation in X or Y Chromosomes, Causing Reduced Fertility
Dec 19, 2007
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. A recent 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.
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/
But this is just the beginning. "Our Department has five scientists who are leading research into Klinefelter's and other chromosomal variations. We are very pleased to join forces with KS&A to raise awareness for these conditions," says Dr. Schlegel, chairman of the Department of Urology and professor of urology and reproductive medicine at Weill Cornell Medical College, and urologist-in-chief at NewYork-Presbyterian/
KS&A presented Dr. Schlegel with a "Lifetime Achievement Award" at its recent meeting to honor his infertility treatment advances—which are rewriting the textbook on Klinefelter syndrome.
A diverse group of scientists from Cornell-Ithaca and Rockefeller University was assembled to create a center of excellence in research on Klinefelter syndrome. The Center will be one of the first nationally comprehensive resources for patients of all ages dedicated to variations in the X and Y chromosomes.
The unique meeting brought together national expertise in molecular biology and genetics of reproduction and molecular endocrinology. Each of the scientists who participated in the conference—Weill Cornell's Dr. Matthew Hardy, an adjunct professor of urology, and Cornell-Ithaca's Dr. Paula Cohen, associate professor of genetics, as well as Dr. Alex Travis, assistant professor of reproductive biology—offer unique expertise in basic science, which, combined with access to patients seen in the Department of Urology, will allow for multidisciplinary collaborations focused on basic scientific research to improve patient care.
"We are very pleased to join with NewYork-Presbyterian/
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. NewYork-Presbyterian/
For more information, patients may call 866-NYP-NEWS.
KS&A is the nation's oldest, largest and best-known organization supporting individuals born with one or more extra X and/or Y chromosomes, including Klinefelter syndrome, Trisomy X and XYY syndrome. KS&A's mission is to help individuals with one or more extra X and/or Y chromosomes and their families lead fuller and more productive lives.
NewYork-Presbyterian Hospital/Weill Cornell Medical Center
NewYork-Presbyterian Hospital/Weill Cornell Medical Center, located in New York City, is one of the leading academic medical centers in the world, comprising the teaching hospital NewYork-Presbyterian and Weill Cornell Medical College, the medical school of Cornell University. NewYork-Presbyterian/
Andrew Klein [email protected]