A Culprit in Infertility, Overlooked Yet Treatable

The NY Times

By LAURIE TARKAN

Published: July 6, 2009

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.

The diagnosis is based on a blood test for excess levels of a hormone called 17-hydroxyprogesterone — there is also a genetic test — and treatment involves small doses of the steroid dexamethasone. It can reverse many of the symptoms in three months to two and a half years.

Dr. New, who has studied the disease among New Yorkers, said she found it in 1 out of 100 people, but more often in certain ethnic groups — 1 in 27 Ashkenazi Jews, for example, and 1 in 40 Hispanics. It is the most common of the autosomal recessive diseases, in which a child inherits two copies of a recessive gene from his parents — a class that includes sickle cell anemia, Tay-Sachs and cystic fibrosis. But not everyone with the disease has symptoms or needs to be treated.

“It’s very variable,” Dr. New said, “and sometimes only one symptom is expressed.”

In its more severe form, classic C.A.H., the excess production of androgens can result in ambiguous genitalia in girls. In the nonclassic form, the excess androgen is lower and the symptoms are milder or nonexistent.

Not all fertility centers test for the disease, or they test for it only after they have tried other treatments. Some obstetricians are unaware of the disease and its effect on fertility, said Dr. Zev Rosenwaks, director of the Center for Reproductive Medicine at NewYork Presbyterian-Weill Cornell hospital.

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Author: Leslie Carol Botha

Author, publisher, radio talk show host and internationally recognized expert on women's hormone cycles. Social/political activist on Gardasil the HPV vaccine for adolescent girls. Co-author of "Understanding Your Mood, Mind and Hormone Cycle." Honorary advisory board member for the Foundation for the Study of Cycles and member of the Society for Menstrual Cycle Research.