Polycystic Ovary Syndrome (PCOS): Why Symptoms Matter More Than a 'Label'

Polycystic ovary syndrome (PCOS) is a complicated condition, one that can cause a range of struggles for women and can be tricky for a doctor to diagnose. Because there isn’t one single diagnostic test to confirm PCOS—and because there are a number of conditions that can mimic it—the condition may be both over-diagnosed and misdiagnosed, some specialists say.

An estimated 5% to 10% of women worldwide between ages 18 to 44 meet criteria for PCOS, a hormone disorder that can cause menstrual irregularity, excess facial and body hair, acne, and infertility. PCOS is usually detected in women between the ages of 20 and 30, but the earliest signs can appear in younger girls around the start of puberty.

One reason diagnosing PCOS can be challenging is that it is often linked with obesity, but it’s unclear if PCOS contributes to obesity or if obesity causes PCOS-like symptoms, says Lubna Pal, MBBS (a medical degree awarded outside the U.S.), MS, a Yale Medicine reproductive endocrinologist, infertility specialist, and PCOS expert.

For example, many women with PCOS have insulin resistance, which also happens in people who are obese, making it harder to lose weight. PCOS is also characterized by an imbalance of reproductive hormones, including elevated blood levels of androgens (male hormones, such as testosterone). But obesity on its own—in the absence of PCOS—also causes elevated free testosterone levels in women. Obesity can also raise estrogen levels in women, which can lead to irregular periods—another symptom of PCOS.

Given these complexities, Dr. Pal says that health care providers shouldn’t rush to place a PCOS label on a woman who has symptoms consistent with the disorder, particularly if she has obesity. Rather, women should work with their primary care physician or a metabolic endocrinologist (a specialist who treats disorders related to hormones and metabolism) to prioritize weight loss as a first step, and see if that relieves their PCOS-like symptoms, Dr. Pal says.

In the Q&A below, Dr. Pal talks more about PCOS, the importance of seeing the appropriate physician for symptoms, and why a misdiagnosis can be harmful, especially to a young girl.

A woman may be diagnosed with PCOS if she meets any two out of three diagnostic criteria. The criteria have evolved over the years with various professional societies and groups having different ways of defining the condition.

One criterion is chronic menstrual irregularity. But not just, ‘I was doing fine until three months ago when my periods became irregular’, but more, ‘my periods have always been irregular as far back as I can remember.’ The most common form of irregularity in the context of PCOS is delayed menses (more than 35 days between periods) or skipping two, three, or more months between periods. However, menstrual irregularity can also mean too frequent periods—two to three periods a month—or even continuous bleeding.

The second criterion is excessive facial and body hair growth. Testosterone is a reproductive hormone that women need, since this hormone gets converted to estrogen by our ovaries. Too much of a single hormone is not ideal, and abnormally elevated testosterone levels can cause ovarian dysfunction, leading to irregular periods.

What is excessive in terms of body hair? Some women are bothered by having body hair, even though they may look exactly like their mom or other women in their family. For clinicians to say a woman has hirsutism, or male-pattern distribution of hair, requires judgment. Rapidly worsening—within weeks to a few months—facial and body hair growth is not a feature of PCOS and requires urgent attention.

Acne is another common bothersome symptom of PCOS. And I’m not talking about adolescent acne or premenstrual acne, but chronic, persistent acne. Excess testosterone can cause greasy skin and acne, but so can insulin resistance.

The third criterion is what is called polycystic-appearing ovaries, which we can see on pelvic ultrasound. Unlike the normal appearing ovaries which are almond shaped and have a volume that is less than 10 millileters, polycystic ovaries are often slightly enlarged, with a volume greater than 10 millileters, somewhat rounded in shape, and classically present a “string of pearls” appearance—with each tiny pearl-like cyst representing a normal ovarian follicle containing an egg.

Right. A woman could have irregular periods and polycystic-appearing ovaries on ultrasound with normal hair growth, no acne, and normal testosterone levels. Or she might have regular periods, polycystic-appearing ovaries on ultrasound, and some acne.

Or, she might have irregular periods and elevated testosterone levels, but no acne or excessive hair growth, and normal-appearing ovaries. Rather than prioritizing a diagnosis, the focus should be on what is causing her symptoms, how to help her achieve her goals, such as fertility, and how to reduce health risks such as diabetes and problems involving the uterine lining—both of which are common in women with long-standing menstrual irregularities.

Not every woman diagnosed with PCOS needs to see a fertility specialist. Women with polycystic ovaries should be reassured of their ovarian reserve, or egg count. Despite having excellent egg numbers, women with PCOS often have difficulty with ovulation, especially those who have irregular periods.

For many who are attempting to conceive, successful pregnancy can be achieved through simple strategies such as lifestyle modification, weight loss, and stress reduction. As a first step, women with PCOS should discuss their fertility plans and goals with their primary care provider or Ob/Gyn, and their health care providers should determine if there are possible contributors to fertility issues. This may include assessing a partner’s sperm, as well as determining the risk for pregnancy-related complications.

For example, women with PCOS—as well as those who are obese—are at risk for pregnancy-related diabetes and blood pressure problems. For women with irregular periods who do not have additional risk factors for infertility, lifestyle modification improves the chances of achieving pregnancy; weight loss alone can result in successful pregnancy for many who are overweight or obese.

For fertility-seeking women with PCOS who are significantly obese and have additional risks for pregnancy-related complications, such as prediabetes and high blood pressure, working with a dietitian, seeing a metabolic endocrinologist, and having a preconception consultation with a high-risk pregnancy specialist are also advised.

Women with PCOS who have not been able to conceive despite improving their lifestyle and achieving some degree of weight loss should consider seeing a fertility specialist, as should those who may have additional risks for infertility, such as a history of sexually transmitted infections, or who are feeling frustrated or discouraged.

When you place this diagnosis on a teenager who may be struggling with excess weight and body image issues, the label will stick. The first thing she and her family are likely to home in on is, ‘Will she have trouble getting pregnant?’ It’s a stigma that may have a lifelong impact on her perception of self—one that she may not be able to shed.

PCOS is over-diagnosed, often misdiagnosed, consistently poorly understood. It’s an epidemic if you look at increasing diagnoses at the population level. And part of the problem is the existing paradigm in health care where the focus is on assigning a diagnosis and referring the patient onwards for “PCOS management”—thereby setting unrealistic expectations that a treatment for PCOS exists. What really needs to be tackled is the cause of her symptoms and harnessing her risks. These assessments do not require subspecialty training and can be provided by a primary care provider, pediatrician, or Ob/Gyn.

It’s important that health care providers, as well as women, recognize that excess weight and insulin resistance can create a PCOS-like picture and that for many, this diagnostic label can be shed if a woman loses excess weight.

Ideally, it would be great if we focus on the patient rather than the diagnostic label, with the primary care provider managing metabolic aspects, the gynecologist managing the gynecological aspects, and fertility specialists stepping in to help those unable to conceive.

A narrative to be shaped around PCOS is to pause and to say, ‘Let’s focus on the specific symptoms rather than simply labeling someone with a single problem.’ We need to flip the script because the label can do more harm than good. Every woman’s symptoms, needs, and goals are different—and there’s no single treatment for PCOS.