Tuesday, July 7, 2009

A Culprit in Infertility, Overlooked Yet Treatable

For more than four years, Joann Citrone of West Deptford, N.J., went through round after round of expensive infertility treatments. But it wasn’t until two years after she and her husband adopted their second child from South Korea that she was finally given a correct diagnosis.

She suffered from a common yet often overlooked condition that can lead to infertility and a host of perplexing symptoms — yet is easily treated when it is properly diagnosed.

The condition is nonclassical congenital adrenal hyperplasia, or C.A.H. — a hormone deficiency that leads to excess production of androgens. In women it can interfere with ovulation; in men it can cause low sperm count. In addition, it can lead to short stature, body odor, acne, irregular menstruation and the excessive hair growth called hirsutism. (Ms. Citrone, now 38, had some of these symptoms, too.)

“The treatment is so cheap and easy,” said Dr. Maria New, a professor of pediatrics and human genetics at Mount Sinai School of Medicine who is considered the leading authority on C.A.H.