The Genetics of PCOS and What It Means for Your Health

May is Women’s Health Month, and to kick things off, Norman Regional Health System is taking a deep dive into everything Polycystic Ovary Syndrome (PCOS) — including its causes, signs and symptoms, genetic factors and the treatment options available in Norman, OK.

What is PCOS?

The World Health Organization identifies PCOS as a hormonal condition affecting 6-13% of reproductive-aged women. Despite being relatively common, up to 70% of PCOS cases remain undiagnosed.

PCOS is caused by hormonal imbalances, particularly when the ovaries produce unusually high levels of androgens — male hormones that, in excess, disrupt the normal balance of female reproductive hormones. These imbalances can interfere with ovulation and lead to a range of PCOS symptoms.

While the exact cause of PCOS is unknown, current research suggests a strong genetic component, linking many of the hormonal disruptions seen in PCOS to specific genetic mutations. Women with a family history of PCOS or type 2 diabetes may be at a higher risk for developing the condition.

Diagnosing PCOS can be difficult because of the range and frequency of the condition’s symptoms, many of which overlap with other hormonal conditions.

PCOS Signs and Symptoms

PCOS symptoms usually begin around the time a woman has her first period; however, for some women, symptoms do not develop until after they have had their periods for a while.

Common signs and symptoms include:

• Menstrual irregularities, including missed periods
• Weight gain
• Acne
• Excess hair growth
• Insulin resistance
• Ovarian cysts
• Infertility

Additionally, people who have PCOS are more likely to have other health conditions, like high blood pressure, sleep apnea, depression, anxiety, high cholesterol, heart disease or endometrial cancer.

How is PCOS Diagnosed?

At this time, no test is available to diagnose PCOS. However, physicians are able to diagnose the condition using a few different methods:

• Physical Exam: This exam includes standard body measurements, as well as the identification of common signs of PCOS (hair growth on face, back, chest, acne or discolored skin).
• Pelvic Exam: This diagnostic method includes a physical examination of a woman’s pelvic area. During this exam, physicians may be looking for swelling or other signs of hormonal imbalance. In certain cases, patients may also be asked to complete a pelvic ultrasound or sonogram to look for cysts inside the ovaries. 
• Blood tests: Blood tests are administered to check hormone levels and rule out other health problems that can be mistaken for PCOS, including type 2 diabetes and thyroid disease.

Another way physicians are able to diagnose PCOS is if a patient has two of the following four symptoms:

• Irregular periods
• Signs of high androgens
  • Extra hair on face, chin and body
  • Severe acne
  • Thinning of scalp hair
• Higher than normal blood levels of androgens
• Multiple cysts on one or both ovaries

PCOS Treatment Options

Some of the available treatment options for PCOS include oral contraceptives to help manage menstrual cycles, medications to control unwanted hair growth, prevent diabetes and implement lifestyle changes.

Norman Regional’s board-certified obstetrician/gynecologist at Care for Women – Norman, Laurel Jordan, DO, is dedicated to helping her patients that may be struggling with symptoms of PCOS.

“PCOS can be a difficult condition to navigate, but I work with each of my patients to create a treatment plan specific to their needs,” said Dr. Jordan. “Each patient is unique, so finding the combination of medications and lifestyle modifications that works best for treating their PCOS is always my goal.”

Here are five steps to take if you have a genetic history of PCOS or are concerned about your risk:

1. Track Symptoms and Family History: If you're experiencing symptoms of PCOS, start keeping a detailed record of how often they occur and how severe they are. Also, take note of any family history of PCOS or type 2 diabetes, as this may increase your risk.
2. Consult a Healthcare Provider: If symptoms persist or worsen, schedule an appointment with an OB/GYN or primary care provider. Be sure to share both your symptoms and any relevant family history during the visit to help guide diagnosis and care.
3. Get a Diagnosis and Develop a Treatment Plan: Follow through with any tests your doctor recommends, such as blood work or an ultrasound. If you're diagnosed with PCOS, work with your provider to create a personalized treatment plan tailored to your symptoms and health goals.
4. Make Recommended Lifestyle Changes: Based on your treatment plan, begin incorporating healthy habits like a balanced diet, regular physical activity, and stress management techniques. These changes can help regulate symptoms and lower the risk of long-term complications.
5. Schedule Regular Follow-Ups: As you begin your treatment, schedule regular follow-up visits with your healthcare provider. These appointments are important for monitoring progress, adjusting your treatment plan as needed and ensuring your symptoms are well-managed.

If you are experiencing symptoms of PCOS or any other related gynecological issues, Dr. Jordan is accepting new patients at the conveniently located Care for Women – Norman. To schedule an appointment with Dr. Jordan, call 405-793-2229 today or learn more here.