Polycystic Ovary Syndrome: Its Genetics and Treatments

Polycystic ovary syndrome (PCOS) is an endocrinopathy common among women of reproductive age. Some women with PCOS have cysts on their ovaries. That’s why it’s called “polycystic.” But the name is misleading because many women with PCOS don’t have cysts. Women with PCOS may have infrequent or prolonged menstrual periods or excess male hormone (androgen) levels. It is characterized by anovulation, infertility, hyperandrogenism, and frequently insulin resistance. Although the role of genetic factors in PCOS is strongly supported, the genes that are involved in the etiology of the syndrome have not been fully investigated until now, as well as the environmental contribution in their expression. Some genes have shown altered expression suggesting that the genetic abnormality in PCOS affects signal transduction pathways controlling steroidogenesis, steroid hormones action, gonadotrophin action and regulation, insulin action and secretion, energy homeostasis, chronic inflammation and others. Because the primary cause of PCOS is unknown, treatment is directed at the symptoms. Insulin-sensitizing agents are indicated for most women with polycystic ovary syndrome because they have positive effects on insulin resistance, menstrual irregularities, anovulation, hirsutism, and obesity. Metformin has the most data supporting its effectiveness. Rosiglitazone and pioglitazone are also effective for ameliorating hirsutism and insulin resistance. Metformin and clomiphene, alone or in combination, are first-line agents for ovulation induction. Insulin-sensitizing agents, oral contraceptives, spironolactone, and topical eflornithine can be used in patients with hirsutism.