Understanding Polycystic Ovary Syndrome

By David Adamson, M.D. | Published 3/1/2020 0

Polycystic-ovary-syndrome woman doctor with woman patient

Photo source: iStock Photo

Polycystic ovary syndrome (PCOS) is common but, unfortunately, it often goes undiagnosed. According to the PCOS Awareness Association, 9-18% of women worldwide have the condition. However, an estimated 50 percent of the 10 million women living with PCOS are undiagnosed. One-third of women who receive a diagnosis report that it was delayed by ~ 2 years.

This article takes a deep dive into the condition as detailed in the table of contents. It also includes a discussion of some new and exciting PCOS research about the role of genetics and the gut microbiome that could, in time, lead to better diagnosis and improved treatment,

What is PCOS?  

PCOS is a common endocrine condition. That means it is related to hormones. It primarily affects women of reproductive age, most often between the ages of 18 to 35. It has both physical and emotional effects on the woman with the condition.  

PCOS is the leading cause of infertility that is based on ovulation dysfunction. The exact cause of the disorder is unknown but recent research suggests links to genetics (it runs in families). It is also linked to the status of the gut microbiome.

Women with PCOS often have higher than normal levels of male hormones (androgens). Elevated androgens interfere with ovulation (release of eggs from the follicles).

Chronic anovulation may result in cystic follicles in the ovaries – thus, the name polycystic ovary syndrome. The assumption is that the cystic follicles develop because the eggs do not mature normally and are not expelled at the time of ovulation.

What are the consequences of PCOS?

Not only does PCOS impact infertility but women with the diagnosis are at greater risk for other serious health conditions, such as:

  • Metabolic syndrome  which is characterized by the following:
    • central obesity
    • high blood pressure
    • high blood sugar 
    • excess body fat around the waist 
    • abnormal blood lipids
  • Diabetes
  • Cardiovascular disease
  • Depression
  • Anxiety

Early diagnosis is important for women who want to have children. It is also important to help prevent or control these other, often serious, conditions.

There is currently no cure for PCOS but there are treatments to improve both quality of life and the potential for pregnancy.

What are the symptoms of PCOS?

PCOS is characterized by a variety of symptoms, including:

  • irregular or absent menstrual periods
  • infertility
  • pelvic pain
  • weight gain/obesity
  • excessive growth of central body hair (hirsutism)
  • acne
  • anxiety and depression
  • fatigue
  • sleep apnea
  • headaches

This may be one explanation for why the condition is often challenging to diagnose.

Related content: Women’s Health: The Pressing Need to Think Holistically

How is PCOS diagnosed?

There is no test to definitely diagnose PCOS. The absence of a targeted diagnostic test likely contributes to delay in diagnosis.

If PCOS is suspected, your doctor is most likely to begin by asking about your medical history, including menstrual periods and changes in weight. He/she will also do a physical exam, including a pelvic exam and obtain blood work.

  • General physical exam

Your doctor will measure your blood pressure, weight/body mass index, and waist size. She will also look for excess hair growth on your face, chest or back, and acne, or skin discoloration. She may also look for hair loss or signs of other health conditions such as an enlarged thyroid gland or insulin resistance.

  • Pelvic exam

You will also have a pelvic exam in order to identify any growths, masses or other abnormalities in your reproductive organs.

  • Transvaginal ultrasound

A transvaginal ultrasound exam will be performed to see if your ovaries are swollen, enlarged or if there are cysts. The thickness of the uterine wall will also be examined.

The test involves a transponder – a wand-like device – that uses sound waves and produces images on a computer screen.

  • Blood tests

Blood tests will be obtained to look at hormone levels. There may be other reasons for having excess androgens or an abnormal period, for example, a thyroid problem. Blood tests may also be used to look at glucose intolerance and high cholesterol (a sign of metabolic syndrome).

Diagnostic criteria for PCOS

A diagnosis of PCOS is considered when at least 2 out the 3 following findings are present:

  • Increased numbers of cysts (antral follicles) in the ovaries (polycystic ovaries) detected by ultrasound (more than a total of 24 antral follicles in both ovaries)
  • Elevated levels of testosterone or clinical findings, such as central obesity (‘belly fat”), excess body hair (hirsutism) or acne
  • Irregular or no menstrual periods 

Once you receive a diagnosis of PCOS your doctor may suggest, based on your clinical situation, additional screening tests for depression and anxiety and for obstructive sleep apnea. There will also be periodic tests to check your blood pressure, glucose tolerance, and cholesterol and triglyceride levels.

The additional test results will be used to determine your risk for developing hypertension, diabetes and heart disease and to prevent or control these conditions.  

What treatment is available for PCOS if I want to get pregnant?

While there is no cure for PCOS, lifestyle changes, medications, and other types of treatments can improve the condition and help to avoid the development of associated conditions, such as metabolic syndrome. 

  • Lifestyle changes

According to Dara Godfrey, R.D., registered dietician and nutritionist for Reproductive Medicine Associates of New York, a healthy diet and exercise are highly recommended and can make a difference. You can help treat PCOS symptoms, improve fertility, and prevent the development of associated conditions by losing weight if you are overweight or obese.

Losing even a modest amount, just 5% of body weight, can make menstrual cycles more regular, restore ovulation and thus, improve fertility. Godfrey advises patients to exercise daily, limit carbs, avoid added sugars, and eat more plant-based foods.

  • Additional options to improve the chance of getting pregnant  

    • Medication

If other causes for infertility are ruled out for both partners, your doctor may prescribe a fertility drug such as clomiphene (Clomid)  or Letrozole, and sometimes metformin, to help you ovulate.

If medication doesn’t work, IVF may be an option. IVF has both higher rates of pregnancy and a smaller risk of multiple births than a fertility drug alone.

  • Egg Freezing

With early diagnosis, women can consider the option of freezing their eggs if fertility is compromised.

  • Surgery

A surgical procedure may be considered but usually only if the other options fail.

One type of surgery involves using a laser or electrosurgery for ovarian drilling to create several holes in the ovaries. This is done to damage a small amount of ovarian tissue.

This small injury results in a change in hormone levels that leads to ovulation in about 2/3 of women so treated. About half of these, or 1/3 of all women treated, will get pregnant. About 1/3 will continue to have regular cycles while the others will return to having irregular cycles.

As with any condition of this type, a full discussion with your doctor can help with selecting the treatment that may be most effective for your individual case.

Treatments for other findings related to androgen excess?

Your doctor can help you address the additional symptoms below. Treatments may vary based on your unique situation including whether and how other symptoms are being treated.

For example, birth control pills are often used to regulate menstrual bleeding and are also the main medical treatment for hirsutism. However, birth control pills that contain only progesterone can sometimes make acne worse while those with both progesterone and estrogen can improve acne. And, for some, birth control pills can make depression worse.

Is there any new research on PCOS?

Research has uncovered new information about PCOS and the diversity of gut bacteria and genetic differences. Additionally, the results of a large survey of PCOS patients may also help improve education and support of the condition. Let’s examine each of these more closely:

  • The role of the gut microbiome in PCOS:

A 2018 study published in The Journal of Clinical Endocrinology & Metabolism found that women with PCOS have less diverse populations of gut bacteria compared to women without the disorder. The researchers compared 73 women diagnosed with PCOS to 48 who did not have the disorder and 42 women who had polycystic ovaries but not the other features of PCOS.

They found that women with PCOS had the least diverse gut bacteria whereas those without PCOS had the most diverse. Women with polycystic ovaries but not the other PCOS features tended to have more diverse gut bacteria than women with PCOS, but less diversity than women without the condition.

The lead author of the study, Varykina Thackray, Ph.D. Associate Professor, UC San Diego School of Medicine, Department of Reproductive Medicine spoke to the Endocrine Society, the professional group and publisher of The Journal of Clinical Endocrinology & Metabolism, noting the research “suggests testosterone and other androgen hormones may help shape the gut microbiome, and these changes may influence the development of PCOS and the impact it has on a women’s quality of life.”

Additional research is needed:

According to Thackray, additional research is needed to determine whether specific gut bacterial species contribute to the development of PCOS and whether the microbiome offers a potential guide for treatment. 

“If testosterone drives the microbial composition of the gut, a compelling next step would be to determine if treatment of PCOS with testosterone blockers or oral contraceptives results in the recovery of the gut microbiome. 

It would also be important to figure out whether the gut microbiome of women diagnosed with PCOS using the criteria of polycystic ovaries and irregular or no menstrual periods is distinct from the gut microbiome of women diagnosed with the other subtypes of PCOS that require elevated testosterone.”

Follow-up study: co-housing PCOS and non-PCOS mice

A follow-up study by Thackray and her team presented at the annual meeting of The Endocrine Society reported intriguing results that show that “altering the gut microbiome via prebiotic or probiotic therapies may be a potential treatment option for PCOS.”

The researchers co-housed PCOS mice with non-PCOS, placebo-treated mice. This exposed the mice to each other’s gut microbiome leading to changes in the gut bacteria. The study found that the PCOS mice showed the following improvements, amongst other changes:

      • developed regular periods and ovulation
      • lower testosterone levels
      • lower insulin levels 
      • less insulin resistance
      • decreased weight

As with the earlier study, Thackray concluded in remarks to The Endocrine Society that “additional research is needed to understand how specific gut bacteria contribute to PCOS and whether the gut microbiome offers potential avenues for treating the condition.” 

The latest study: obese teens have more unhealthy gut bacteria

A study published in the January 23, 2020 issue of the Journal of Clinical Endocrinology & Metabolism found that obese teens with PCOS have more “unhealthy” gut bacteria compared to obese teens without PCOS. 

According to one author, Melanie Cree Green, M.D., Ph.D., of Children’s Hospital Colorado in Aurora, Colorado:

“The unhealthy bacteria related to higher testosterone concentrations and markers of metabolic complications.”

Lower bacterial diversity was strongly associated with higher testosterone concentrations. However, further work is needed to determine if microbiota changes are reflective of, or influencing, hormonal metabolism.

  • Genetic markers for PCOS

A 2019 study published in The Journal of Clinical Endocrinology & Metabolism found that a rare genetic variation helps “drive testosterone production in the ovaries.” 

According to lead author Andrea Dunaif, M.D, Chief of the Endocrinology, Diabetes and Bone Disease Division at the Icahn School of Medicine at Mount Sinai, this genetic variation could serve a marker for early PCOS detection. The same study also showed, for the first time, genetic evidence of “a causal link between PCOS and depression.”

She added “Because physicians don’t know what causes PCOS, they will treat your symptoms. Through genetics, we’re starting to understand the condition and may have specific therapies in the not-so-distant future.”

  • Research: patient-centered care 

Beyond new clinical research to advance early diagnosis and treatment, significant progress is needed to improve PCOS patient-centered care. This includes better education and more support based on patient surveys.

    • Delays in diagnosis

The largest study to date to examine the length of time for PCOS diagnosis discovered “major gaps” in education and support. The 2017 study was conducted by the Perelman School of Medicine at the University of Pennsylvania and published in the Journal of Clinical Endocrinology & Metabolism.

The study surveyed 1,385 women from 48 different countries diagnosed with PCOS to learn more about their diagnosis experience and what information they received about the condition. Here are some of their findings:

      • More than one-third (33.6 percent) of women reported it took more than two years before receiving a diagnosis
      • Nearly half (47.1 percent) saw three or more health professionals before receiving a diagnosis
      • Only 15.6 percent of women said they were satisfied with the information they received

It should come as no surprise that “studies have shown that the longer it takes for the condition to be diagnosed, the greater the patient dissatisfaction,” according to senior author Anuja Dokras, MD, Ph.D., a Professor of Obstetrics and Gynecology and director of the Penn Polycystic Ovary Syndrome Program.

She adds “These new results are concerning for both women who are, or may be, affected by PCOS, and health care providers.”

    • Better support for women with PCOS

In the same study, women surveyed were also asked how to best support those with PCOS:

      • More than 90 percent said providing broadly available educational materials would be helpful
      • 70 percent expressed an interest in support and presentations at patient workshops

Study authors believe “greater community and clinician awareness about the full range of PCOS features is needed internationally to enable early diagnosis.” 

Dokras observed that the women with PCOS were most concerned about their trouble losing weight, irregular menstrual cycles, and infertility. She said:

“Health care providers have an obligation to provide these patients with better support and information at the time of diagnosis to help them understand and manage their condition.”

    • Earlier diagnosis is important to women with PCOS

This study documented struggles and delays in PCOS diagnosis and reveals a significant missed opportunity to improve treatment and quality of life for these patients. Study authors suggest an earlier diagnosis will allow providers to more proactively intervene and treat symptoms such as obesity, acne, excess body hair, anxiety, and depression more effectively.

For other PCOS factors, the timing of diagnosis and treatment is critical, particularly for those who want to have children and women at the highest risk for serious conditions including diabetes, hypertension, and heart disease.

To improve, the study authors call for:

      • Development of international evidence-based guidelines
      • Co-designed consumer and health professional resources
      • International dissemination to improve diagnosis experience, education, management, and health outcomes

For the past few years, health care providers and patients have heralded the age of “patient empowerment.” The value of knowing more improves self-care management and more effective shared medical decision making. This is certainly true today for those dealing with infertility. 

Related Content:  5 Things Not to Do When Delivering Bad News to Patients

The bottom line

There is vast room for improvement for PCOS, a condition that affects so many women across the globe and impacts fertility. It can have a devastating effect on health status and quality of life. The good news is that there is promising news from recent clinical research that may aid diagnosis, treatment, and patient-centered care.

Still, what women are currently experiencing, particularly as it relates to diagnosis, is simply unacceptable. We need to do better.

A number of organizations are trying to fill in some of the gaps by offering support groups and up-to-date information while advocating for progress. You can start by checking out the FAQ index and PCOS glossary from the PCOS Awareness Association. Additional support and resources are available from The PCOS Challenge, the National PCOS Association. Good, evidence-based information can also be found at www.reproductivefacts.org.

Other stories in Women’s Health: Health Conditions That Can Lead to a Hysterectomy

Watch this space. It can only get better.


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David Adamson, M.D.

Website: https://www.arcfertility.com/

G. David Adamson, BSc, MD, FRCSC, FACOG, FACS is a reproductive endocrinologist and surgeon, Clinical Professor ACF at Stanford University, and Associate Clinical Professor at University of California San Francisco.

His undergraduate, medical school, and obstetrics/gynecology residency training were at the University of Toronto, and his Reproductive Endocrinology and Infertility fellowship training at Stanford University. Currently, he is Director of Equal3 Fertility, APC, and CEO of ARC® Fertility.

Dr. Adamson has over 300 peer-reviewed and scientific/medical publications and has lectured extensively for more than 30 years nationally and globally on assisted reproductive technologies, endometriosis, reproductive surgery, infertility, and access to quality reproductive health care. Dr. Adamson led the committee that created The FIGO Fertility Toolbox and the organization that created the global Endometriosis Phenome and Biobanking Harmonization Project (EPHect). He created the Endometriosis Fertility Index, all digital tools used globally to improve health care for reproductive-age women.

He is Chair of the International Committee Monitoring ART (ICMART), which is a non-State actor (NSA/NGO) in official relations with the World Health Organization (WHO) and President of the World Endometriosis Research Foundation (WERF). Dr. Adamson is on the Board of the International Federation of Fertility Societies (IFFS) and FIGO Committee on Reproductive Medicine of which he is Past Chair. He is the Founder, Chairman, and Chief Executive Officer of Advanced Reproductive Care (ARC® Fertility), the largest United States network fertility company.

Dr. Adamson is Past President of the American Society for Reproductive Medicine (ASRM), Society for Assisted Reproductive Technology (SART), AAGL, and several other major gynecological societies. He has been recognized as one of the best 400 physicians for women in America. He has received many awards, including the Outstanding Achievement in Medicine award from the Santa Clara County Medical Society, a Certificate of Special Congressional Recognition for contributions to the community, Distinguished Surgeon award from the Society of Reproductive Surgeons, Honorary Life Membership from the Canadian Association of Internes and Residents, the Barbara Eck Founders Award from RESOLVE, numerous honorary memberships and professorships, and the ASRM Distinguished Service award for his outstanding achievements in advancing the practice of reproductive medicine.

Dr. Adamson enjoys spending time with his family, reading, hiking, traveling, and ice hockey.

In addition to being a contributing author for The Doctor Weighs In, Dr. Adamson also serves on the TDWI Editorial Board, where he medically reviews articles submitted for publication.

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