Treatable Hormonal Condition Sometimes Overlooked In Infertility Patients

Main Category: Fertility
Also Included In: Endocrinology;  Women's Health / Gynecology
Article Date: 09 Jul 2009 - 6:00 PDT

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A condition known as congenital adrenal hyperplasia, or CAH, is easily treatable but frequently overlooked or misdiagnosed, leading to infertility and other "perplexing symptoms," the New York Times reports. CAH is a hormone deficiency that leads to excess production of androgens, which can hinder ovulation in women and cause low sperm count in men. It also can cause short stature, body odor, acne, irregular menstruation and excessive hair growth. The condition can be diagnosed through a blood test and treated with small doses of the steroid dexamethasone, which can reverse symptoms in three months to two-and-one-half years.

According to Maria New, a leading authority on CAH and a professor of pediatrics and human genetics at Mount Sinai School of Medicine, the disease occurs in one in every 100 people in the general population. It is more common among certain ethnic groups, occurring in one in 27 Ashkenazi Jews and one in 40 Hispanics. Not everyone with the condition has symptoms or needs to be treated. The most severe form of the disease, classic CAH, can result in ambiguous genitalia in girls, while the milder nonclassical form sometimes produce no symptoms, the Times reports.

Many fertility clinics do not test for the disease or only test after attempting other treatments. Some obstetricians are unaware of CAH and its effect on fertility, according to Zev Rosenwaks, director of the Center for Reproductive Medicine at New York Presbyterian-Weill Cornell hospital. CAH also can be confused with polycystic ovarian syndrome -- which has some similar symptoms -- or early puberty in younger patients (Tarkan, New York Times, 7/7).

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