SNP Shot: Genomic Insights

Polycystic ovary syndrome (PCOS) is a common hormonal disorder affecting women of reproductive age. It disrupts hormone balance, impacting various bodily systems.

A hallmark of PCOS is hyperandrogenism, where women produce excessive amounts of male hormones (androgens). This often leads to symptoms such as excessive hair growth (hirsutism), acne, and hair loss resembling male pattern baldness.

Hyperandrogenism and other hormonal imbalances interfere with ovulation, the normal release of eggs from the ovaries, and can cause irregular periods. This can result in difficulty getting pregnant (subfertility) or infertility. Pregnant women with PCOS face a higher risk of pregnancy complications and miscarriage. Additionally, the irregular menstrual cycles and hormonal issues elevate the risk of cancer of the uterine lining (endometrial cancer).

In PCOS, the ovaries may contain numerous small, immature follicles, which appear as cysts on imaging. These follicles should normally mature and release an egg during ovulation. However, in PCOS, hormonal imbalances prevent this maturation. Instead, these follicles accumulate in the ovaries; women may have 12 or more. The number of follicles tends to decrease as women age.

Approximately half of women with PCOS are overweight or obese, increasing their risk of fatty liver disease. Many also have elevated insulin levels, a hormone regulating blood sugar. By age 40, roughly 10% of overweight women with PCOS develop type 2 diabetes (high blood sugar), and up to 35% develop prediabetes (blood sugar levels higher than normal but not diabetic). Obesity and high insulin levels (hyperinsulinemia) can exacerbate androgen production in PCOS.

PCOS also elevates the risk of metabolic syndrome, a cluster of conditions including high blood pressure (hypertension), excess abdominal fat, unhealthy cholesterol levels, and high blood sugar. About 20% of affected adults experience sleep apnea (pauses in breathing during sleep). Women with PCOS also have a higher incidence of mood disorders such as depression compared to the general population.

Inheritance:

The inheritance pattern of PCOS is complex and not fully understood. While individuals with PCOS often have a family history of the condition, with estimates suggesting that 20-40% have an affected mother or sister. This familial clustering likely results from a combination of shared genetic factors and lifestyle influences within families.