Call for Better Diagnosis, More Research into PCOS

Pam Harrison

November 26, 2015

The etiology of polycystic ovary syndrome (PCOS) is generally poorly understood, and there is a need for further research to better delineate its characteristics, outcomes, and genetic underpinnings, urges the US Endocrine Society.

"PCOS is the most common hormonal disorder among women in their reproductive years, yet many aspects of the condition are not fully understood," it notes in a recent scientific statement on the topic.

"And because PCOS causes [such] diverse symptoms that can vary among individual women, the definition and even the name 'PCOS' have been subject to debate."

In recognition of the poor overall understanding of this common hormonal disorder, the Endocrine Society has published the statement detailing a host of recommendations.

Among these is the suggestion that a diagnosis of PCOS be made if adult women have two of the three following cardinal features of the syndrome:

  • Excess androgen production.

  • Anovulation.

  • The formulation of cysts containing immature eggs in the ovaries (polycystic ovaries).

As the society points out, normal development of the ovaries during adolescence can mimic the appearance of ovarian cysts, which makes it particularly difficult to diagnose PCOS in adolescent females.

The scientific statement thus calls for more research into PCOS in adolescence, including the establishment of reliable diagnostic criteria to aid diagnosis of PCOS in young girls.

"Earlier diagnosis is crucial for gaining a better understanding of the long-term effects of PCOS," said Richard Legro, MD, chair of the task force that developed the statement. Dr Legro is also professor of obstetrics, gynecology, and public health sciences at Penn State College of Medicine, Hershey.

If healthcare providers were armed with better strategies for diagnosing PCOS in teenage girls, "they would be able to intervene sooner to address risk factors for diabetes and cardiovascular disease [CVD]," he stresses.

Women with PCOS are at significantly greater risk of developing diabetes and CVD than women without the condition.

And many women with PCOS also suffer from infertility, so there is a pressing need to better understand how the presence of polycystic ovaries and accompanying abnormalities prevent women with PCOS from becoming pregnant.

PCOS also disproportionately affects certain ethnic groups and particular families, so studies are also required to discover the underlying reasons for this, which may include constellations of genes as likely contributors.

"Researching the genetic and environmental factors that contribute to these variations could lead to the development of precision treatments personalized for women who have PCOS," Dr Legro opined.

The Endocrine Society is also calling for more cell and animal models of PCOS to gain insight into the origin of the condition.

Similarly, research is needed to unravel how molecular mechanisms interact to control the function of the ovaries and identify ways to prevent the development of cysts, among other reproductive abnormalities characteristic of the condition.

"Such studies would significantly improve our understanding of how to correct the dysfunctional follicle growth and abnormal oocyte development that occurs in PCOS," say the authors.

"The pathophysiology of PCOS clearly involves both reproductive and metabolic manifestations; however, there are still large gaps in identifying a common molecular mechanism that would explain both aspects of the phenotype or the significant heterogeneity of the syndrome," they conclude.

The work was supported by grants from the National Institutes of Health and University of Virginia Grant. Dr Legro reports consulting for AstraZeneca, Euroscreen, Clarus Therapeutics, Takeda, Kindex, and Sprout, with grant support from Ferring and AstraZeneca. Disclosures for the coauthors are listed in the statement.

Endocr Rev. 2015;36:487-525. Abstract


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