Genetic Discovery May Simplify PCOS Diagnosis, Treatment

By studying the genes of nearly 900 women with irregular periods, researchers have revealed two main subtypes of polycystic ovary syndrome (PCOS).
By on 06/25/2020 2:00 PM

Source: MedicineNet Health News

By studying the genes of nearly 900 women with irregular periods, researchers have revealed two main subtypes of polycystic ovary syndrome (PCOS). This fundamental insight could provide direction for better diagnosis and treatment of PCOS.

For a condition that affects at least 15% of all reproductive-age women, much remains unknown about PCOS, including the exact cause, according to MedicineNet medical author Melissa Conrad Stöppler, MD.

Diagnosis of PCOS can cause “considerable controversy,” as it is currently based on expert opinion, and experts do not all agree to the same criteria, according to authors of the study published Tuesday in PLOS Medicine.

To pinpoint a diagnosis, doctors currently need to rule out various other illnesses that have similar symptoms. PCOS can be mistaken for hypothyroidism and ovarian tumors, among many other conditions, Dr. Stöppler said.

This is because of the wide variety of signs and symptoms in women with PCOS, which are principally related to menstrual disturbances, Dr. Stöppler said. The condition can cause delayed menstruation, as well as cycles that are not associated with ovulation and may cause heavy bleeding.

But women with PCOS can also have elevated androgen hormones, which can cause excess body hair growth, acne, and male-pattern hair loss. Explaining what causes these symptoms, or other non-menstrual symptoms like obesity, dandruff, skin discoloration, high cholesterol, infertility, and others can contribute to confounding and inaccurate diagnosis for many women.

The new study found that women with PCOS fall into at least two main subtypes based on their genetic profiles. One, called the “reproductive subtype” is characterized by higher levels of an ovary-regulating hormone called luteinizing hormone (LH). Women in this subtype also had more of the protein that transports sex hormones known as SHBG. This subtype tended to have lower body mass and lower insulin levels than the other women who were tested.

The second group, known as the “metabolic group” had higher BMI on average. Their insulin and glucose levels were higher, too. These women had lower LH and SHBG than women of the first subtype, and made up a larger percentage of women tested.

Both subtypes tended to cluster in families, the researchers found.

These tests suggest PCOS can be more easily diagnosed in the future using genetic screening.

Understanding the genetic background of women with PCOS may also provide individualized care to women with the condition.

Current treatment for PCOS tends to focus on treating condition’s various symptoms, such as the water pill spironolactone for acne, and hormonal birth control pills to regulate periods and reduce uterine cancer risk, Dr. Stöppler said.

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