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Polycystic Ovary Syndrome Often Missed Diagnosis


It is the most common hormonal disorder among women of childbearing age, yet it is often missed or misdiagnosed. Polycystic ovary syndrome (PCOS; also known as polycystic ovarian syndrome) is a frequent cause of infertility among women and, according to a recent study, men can be affected as well.

Polycystic ovary syndrome is so named because the ovaries in most, but not all, women who have the disorder are enlarged and are characterized by numerous small cysts located on the outer edge of each ovary. These cysts can be detected using ultrasound. The exact cause of PCOS is not known, although insulin resistance, low-grade inflammation, and genetics have been proposed. What is apparent is that many women with the disease have trouble becoming pregnant because of infrequent or a lack of ovulation.

Infertility is not the only condition associated with PCOS. According to the Polycystic Ovarian Syndrome Association, women with the disease also often experience excessive weight gain, excess facial and body hair, depression, high cholesterol, oily skin, skin discoloration, elevated blood pressure, and acne. Early diagnosis and treatment of the PCOS is important not only for women who want to become pregnant, but also because complications of the disease include type 2 diabetes, stroke, and heart disease. An estimated 5 million women in the United States have PCOS.

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Andrea Dunaif, MD, the Charles F. Kettering Professor of Medicine at Northwestern University Feinberg School of Medicine and a physician at Northwestern Memorial Hospital, is a national expert on PCOS. She notes that the genetic disease is associated with serious health risks, including obesity and twice the rate of metabolic syndrome, a collection of risk factors for diabetes and heart disease.

Of special interest is a recently published study by Dunaif and her colleagues in the Journal of Clinical Endocrinology and Metabolism showing that women who have PCOS have twice the risk for metabolic syndrome compared with women from the general population, and that the fathers and brothers of women with PCOS also have a higher prevalence of metabolic syndrome. The high rates of metabolic syndrome in these male relatives of women with PCOS are associated with higher rates of obesity in these men.

Symptoms of PCOS in women often first appear during adolescence and may include irregular periods and some of the other symptoms already mentioned, caused by high levels of male hormones. As time goes on, women may seek medical help for their symptoms, but according to Dunaif, “Women are told they are too fat and aren’t taken seriously for a long time.” She notes that women on average consult four doctors before they get a correct diagnosis of PCOS.

Symptoms of polycystic ovary syndrome are often mistaken for other medical problems or written off as “women’s problems” and not diagnosed. Women who are experiencing symptoms associated with polycystic ovary syndrome and who have not gotten a diagnosis should arm themselves with information about the disease and seek a knowledgeable physician so they can explore the possibility that they have the disease.

Coviello AD et al. High prevalence of metabolic syndrome in first-degree male relatives of women with polycystic ovary syndrome is related to high rates of obesity. Journal of Clinical Endocrinology and Metabolism 2009 Nov; 94 (11): 4361-66
Mayo Clinic
Northwestern University
Polycystic Ovarian Syndrome Association