Polycystic Ovarian Syndrome (PCOS) is an endocrine disorder in females characterized by irregular menstrual periods, hyperandrogenism, and chronic anovulation. Steve and Leventhal were the first to describe this disorder in 1935. Currently, it is the most common hormonal disorder affecting women of reproductive age. The disease gets its name from the characteristic large and cyst-studded ovaries seen in patients. These cysts are, in actuality, follicles containing immature eggs, which are unable to mature due to an excess of androgens and an abnormally high ratio of LH to FSH.
The major symptoms of PCOS include oligomenorrhea or amenorrhea, infertility resulting from lack of ovulation, elevated serum androgen level, which may result in increased facial, chest, and stomach hair, central obesity, male-pattern baldness, extended periods of PMS-like symptoms, enlarged ovaries with multiple cysts, and chronic pelvic pain. Other long-term complications of PCOS include high cholesterol, high blood pressure, non-insulin dependent diabetes mellitus, gestational diabetes, and pregnancy induced hypertension. The underlying etiology of the disorder is not clearly understood. However, research has shown a connection with excess insulin.
Diagnosis of the disorder is made on the basis of blood hormone-level measurements. In addition, ultrasound examination of the pelvic region is also performed to study the status of the ovaries. Drugs used for treatment include birth control pills, spironolactone to decrease hair growth and flutamide. Drugs like metformin that make the cells more insulin sensitive are also administered. A surgical procedure called ovarian drilling is also performed to promote ovulation, although its effects may last for only a few months.
Although the pathogenesis of PCOS is not clear, the disease does have a definite genetic component. This is exemplified by a higher risk of development of the disease among women who have an affected sister. In addition, ethnic and racial variations in the prevalence of this condition have also been reported. Many genes have been implicated in the development of PCOS. These include Cytochrome P450, Subfamily XIA, Polypeptide 1 (CYP11A1), Calpain 10, Follistatin, FEM1A, and Insulin Receptor (INSR) among others.