PCOS is one of the most commonly diagnosed hormonal disorders in women and it is the leading cause of irregular menstruation in women of reproductive age. I often see patients for PCOS management in my practice and what is most striking to me is the varying nature of symptoms. This is the reason why PCOS is considered a syndrome rather than a disease. Women affected by it may present with minimal symptoms, ranging all the way to severe and lifelong health problems including:

  • Cosmetic concerns
  • Infertility 
  • Metabolic derangements

PCOS has a strong hereditary component which accounts for up to 70% of cases. If you are diagnosed with PCOS, there is a 50/50 chance that your sister has the same condition. Other family members, including male relatives may have the metabolic issues associated with PCOS such as prediabetes, weight gain and high cholesterol. 

Physiology of PCOS:

While the exact cause of PCOS is unknown, there appear to be a complex interaction of genetic and environmental factors involved. The general consensus is that in PCOS, the ovaries are hyper-reactive to signaling hormones from the pituitary gland (also known as the gonadotropin hormones, FSH and LH). The result is overproduction of ovarian hormones including testosterone and/or DHEA (what is referred to as hyperandrogenism) as well as the proliferation of immature ovarian follicles. 

About half of all PCOS cases will also have insulin resistance. And the resultant high levels of insulin can further aggravate hyperandrogenism.

Diagnosis of PCOS is currently made using the Rotterdam Criteria from 2003:

Having 2 out of the 3 criteria is considered a positive diagnosis

Irregular or no menses 

Hyperandrogenism or excess male hormone evident in blood testing or clinically

Pelvic ultrasound that demonstrates polycystic appearance of the ovaries

(It is important to note here that insulin resistance is not a part of the official diagnostic criteria though it is a very commonly seen with this syndrome.)

Signs and Symptoms:

Irregular or skipped menses:

This is often the presenting symptom in PCOS. It is not uncommon for newly menstruating girls to have irregular periods but if the irregularity persists or if the periods stop coming altogether, it warrants further evaluation. At this point, many young women will see a doctor for the issue and a gynecologist is typically the initial assessor. 

Why does having regular periods matter? Most gynecologists advise that menstrual bleeding should occur at least 3-4 times per year to slough out the endometrial lining in the uterus. Without this, the uterine lining could thicken causing endometrial hyperplasia and increasing the risk of endometrial cancer in the long run. Irregular periods also indicate irregular or no ovulation (anovulation) which impacts fertility and a woman’s ability to conceive naturally. 

Hyperandrogenism or excess male hormone evident in blood testing or clinically:

Another commonly seen presenting symptom is increasing facial or body acne after puberty or facial hair growth around the upper lip, cheeks and neck that is dark and coarse. (some women will report more body hair compared to other women in their family).  The cosmetic concerns of hair and acne are caused by the imbalance of hormones in PCOS, with increased levels of masculinizing hormones such as testosterone or DHEA. This is a highly variable symptom with some women having no hair or skin issues and others with significant cosmetic concerns. 

Pelvic ultrasound that demonstrates polycystic appearance of the ovaries:

This clinches the diagnosis in many cases and can be easily done at the gynecologist’s office or a local radiology facility. 

Insulin resistance and metabolic derangements: 

Although not part of the criteria to diagnose PCOS, it is very commonly seen with this syndrome. Hence, it warrants a good work up upon initial diagnosis and long term monitoring with diet and lifestyle changes. Many women with PCOS, whether overweight or underweight (“lean PCOS”) have insulin resistance. This means that their pancreas has to produce higher levels of insulin in order to maintain a normal blood sugar. Higher insulin production can manifest as weight gain or difficulty losing weight as well as darkening of skin in the folds around the base of the neck, armpits and groin (this skin finding is called acanthosis nigricans). Insulin resistance also increases the risk of gestational diabetes in pregnancy, or prediabetes in the long run due to the increased demands on the pancreas. 

Recommended testing:

Sex hormones, particularly the ‘male’ flavored sex hormones such as testosterone, DHEA, 17-hydroxy progesterone etc.

Blood sugar screening with a hemoglobin A1C, fasting blood sugar and insulin levels

Thyroid screening: because many women with PCOS will also have concurrent Hashimoto’s which is important to treat for fertility planning, weight management etc. 

Pelvic ultrasound to record ovarian size and appearance of follicles

In subsequent posts, I will explore treatment options in more detail, including holistic or natural approaches as well as conventional medical therapy. 

Yours in good health, 

Dr. Ashita Gupta