Navigation Links
Physician-scientists seek solutions to reproductive problems related to chromosomal variations
Date:12/19/2007

NEW YORK (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/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.

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/Weill Cornell.

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.

"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.

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. 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/Weill Cornell, whose important research is a cornerstone for a growing body of knowledge that will help transform the lives of individuals who have X and Y chromosome variations," says Robert Shelton, chairman of the Board of Directors of KS&A. "There is a high likelihood that research into these chromosomal variations will make substantial contributions to knowledge about breast cancer, learning disabilities and other seemingly unrelated phenomena as more is discovered concerning the relevance of genes located on the X and Y chromosomes."

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/Weill Cornell and KS&A are working diligently to change that.


'/>"/>

Contact: Andrew Klein
ank2017@med.cornell.edu
212-821-0560
New York- Presbyterian Hospital/Weill Cornell Medical Center/Weill Cornell Medical College
Source:Eurekalert

Related biology news :

1. e-Science points to pollution solutions
2. Image Solutions, Inc. Acquires Zurich Biostatistics, Inc.
3. BIO-key International Showcasing Innovative Public Safety Solutions at 2007 IACP Conference
4. Economical, nonpolluting solutions to greenhouse growing found
5. Software Techniques Inc. Selects M2SYS Fingerprint Software to Meet Continuous Growth and Demand for Desktop Biometric Time & Attendance Solutions
6. Study finds Viagra increases release of key reproductive hormone
7. Study identifies pathway required for normal reproductive development
8. Abnormal fat metabolism underlies heart problems in diabetic patients
9. Study finds blocking angiogenesis signaling from inside cell may lead to serious health problems
10. Prolonged respiratory problems for oil spill clean-up volunteers
11. New thoracic imaging approach can pinpoint underlying venous problems
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/6/2017)... March 6, 2017 Mintigo , ... today announced Predictive Sales Coach TM , its ... sales intelligence into Salesforce. This unique AI application ... sales organizations with deep knowledge of their customers ... intelligent engagement. Predictive Sales Coach extends Mintigo,s existing ...
(Date:3/2/2017)... 2, 2017 Australian stem cell and regenerative ... has signed an agreement with the Monash Lung Biology ... Discovery Institute and Department of Pharmacology at Monash University, ... preclinical study to support the use of Cymerus™ mesenchymal ... Asthma is a chronic, long term lung ...
(Date:2/28/2017)... 27. Februar 2017  EyeLock LLC, ein marktführendes Unternehmen ... erstklassige biometrische Lösung zur Iris-Erkennung auf der ... LTE auf dem Mobile World Congress 2017 ... in Halle 3, Stand 3E10, vorstellen. ... Qualcomm Haven™ – eine Kombination aus Hardware, ...
Breaking Biology News(10 mins):
(Date:3/23/2017)... MA (PRWEB) , ... March 23, 2017 , ... ... “a viscoelastic material that exhibits both viscous and elastic characteristics when deformed, which ... disc polymer exhibits properties to gently absorb compressive forces and return to its ...
(Date:3/23/2017)... MILFORD, Mass. , March 23, 2017 ... leading partner to global in vitro diagnostics ... launch of the industry,s first multiplexed ... inherited disease testing by next-generation sequencing ... materials were developed with input from industry ...
(Date:3/23/2017)... Kineta, Inc., a biotechnology company focused ... immuno-oncology, today announced the discovery and characterization of ... activate interferon response factor 3 (IRF3) via RIG-I ... regression in a murine colon carcinoma mouse model.  ... tumor regression to initial drug treatment were resistant ...
(Date:3/23/2017)... In today,s pre-market research, Stock-Callers.com ... Biotech industry: Sangamo Therapeutics Inc. (NASDAQ: SGMO), Eyegate Pharmaceuticals ... and Regulus Therapeutics Inc. (NASDAQ: RGLS ). ... its rating on Pharmaceuticals/Biotechnology to "Overweight" from "Market Weight." Learn more ... ...
Breaking Biology Technology: