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For the first time, couples with a male partner who has been diagnosed with Klinefelter's Syndrome, a genetic disorder that causes sterility in men, have achieved healthy pregnancies and deliveries. Physicians from The Center for Reproductive Medicine and Infertility and the Department of Urology at The New York Hospital-Cornell Medical Center reported their results in the February 26th issue of The New England Journal of Medicine.

"Genetic abnormalities are major causes of azoospermia, an absence of sperm in the semen," said Dr. Zev Rosenwaks, senior author and Director of the Center. "These patients presented a particularly difficult challenge for our IVF team since they were diagnosed with the most complete form of Klinefelter's and did not have sperm in their ejaculate."

In both reported cases, testicular biopsies, where sperm is extracted from the testes, were used to obtain sufficient sperm for in vitro fertilization using Intracytoplasmic Sperm Injection (ICSI), where a single sperm is injected directly into the egg. This resulted in successful pregnancies, and ultimately, the delivery of three healthy infants.

Klinefelter's Syndrome is a genetic disorder characterized by an extra X chromosome which affects nearly 1 in 500 men.

"Our study suggests that ICSI, along with IVF, is an effective treatment for the most complicated cases of male-factor infertility. As long as we can locate some sperm cells, we should be able to continue to expand the application of ICSI," said Dr. Gianpiero Palermo, lead author and Associate Professor of Embryology in Obstetrics and Gynecology.

"ICSI continues to redefine the limits of male sterility. As we continue to make advancements with this technique, it becomes possible for any man who has even a single or few sperm in the testes to achieve fertilization and produce healthy offspring," said Dr. Rosenwaks.

New York-Cornell's Center for Reproductive Medicine and Infertility, one of the largest infertility centers worldwide, treats over 2,000 patients annually, and has achieved a better than 40 percent delivery rate with the application of ICSI. In female partners who are younger than 35 years of age, ICSI can achieve a delivery rate exceeding 50 percent per egg retrieval.