Polycystic Ovary Syndrome (PCOS): Clinical Challenges in Screening and Diagnosis

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder affecting females of reproductive age.¹˒² The condition has wide ranging symptoms that can mimic other illnesses, confounding diagnosis and treatment.¹⁻³

Difficulties in Diagnosis

Over the past several decades, PCOS diagnostic criteria have undergone multiple revisions, causing controversy and debate among scientists and clinicians.⁴ Differing definitions of PCOS may lead to variations in prevalence rates, cause delayed diagnosis, and increase gaps in identification of disparities related to the condition.⁵˒⁶

Research results show up to 75% of females with PCOS may be undiagnosed, hampering treatment.⁵ While there is no universal definition of the condition, use of the Rotterdam criteria is the current recommendation. It requires the presence of at least two of the following for diagnosis – ovulation dysfunction, hyperandrogenism, and polycystic ovaries.¹˒⁴˒⁶

However, strictly adhering to these broad criteria for definitive diagnosis may contribute to diagnostic difficulties due to the variability of individual patient presentations. Studies indicate age, racial, environmental, and socioeconomic factors all play a role in the diagnosis of PCOS.¹˒²˒⁴˒⁶ For example, among adolescent females, irregular ovulation in early stages of menstruation may be common.¹ This is why the Pediatric Endocrine Society recommends different diagnostic criteria for adults and adolescents.⁷ Further, environmental factors such as exposure to toxins, diet, and nutrition may also increase the risk of PCOS development or disease outcomes and should be considered during assessment.⁸˒⁹

What Roles Do Comorbidities Play?

PCOS has been linked to multiple health complications including metabolic, reproductive, cardiovascular, dermatologic, and psychological conditions. Insulin resistance and weight gain in particular contribute to higher risk of cardiovascular disease and diabetes long term. These risks are also greater among certain racial/ethnic groups.¹⁰˒¹¹

PCOS can cause or worsen:²˒⁴˒¹²˒¹³

• type 2 diabetes

• cardiovascular disease

• hypertension

• obesity

• infertility

• dyslipidemia

• thyroid disease

• mood disorders (anxiety, depression, insomnia, eating disorders)

• obstructive sleep apnea

• endometrial cancer

• uterine cancer

• COVID-19

It’s unclear if certain comorbidities are symptoms of PCOS or may exacerbate the condition. However, evidence shows delayed diagnosis of PCOS can increase serious negative health consequences.²˒³˒¹⁴

Are Racial Disparities a Factor in Assessment?

Racial and cultural disparities can create barriers to timely diagnosis and treatment of PCOS and its symptoms among some Black, Indigenous, and People of Color (BIPOC) groups.

Disparities may include:

• clinical presentation

• stigma and stress associated with symptoms

• lack of access to medical care

• lack of disease awareness

Studies show Black and Hispanic females are at higher risk of metabolic syndrome and cardiovascular complications with PCOS.¹⁵⁻¹⁸ Further, lack of access to gynecological and endocrinological clinical services among some BIPOC groups with low socioeconomic status may also contribute to delayed diagnosis, treatment, and poorer long-term outcomes.¹⁹˒²⁰

Cultural and familial stigma associated with infertility, and psychological stress stemming from certain symptoms can also negatively affect outreach for clinical diagnosis and treatment.²¹⁻²³

In addition, paucity of research regarding racial/ethnic and socioeconomic contributors of PCOS foster assessment gaps and cause challenges in ascertaining disease prevalence among different populations.⁵˒²⁰

Successful Approaches for Diagnosis and Outcomes

PCOS is a complex condition with multisystem involvement that can obstruct timely diagnosis.²⁻⁴ Patients may be asymptomatic or have various endocrine, dermatological, or mood disorders, which often obfuscate accurate diagnosis. There may also be racial and cultural barriers adding to discrepancies in disease awareness, acceptance, and outreach for diagnosis. Yet, early identification is crucial for managing disease complications, preventing comorbidities, and improving health outcomes.

Therefore, since no single diagnostic test exists for PCOS, clinicians must rely on a combination of approaches including mapping various symptoms, taking a careful patient history and physical exam, along with blood and imaging tests when necessary for definitive diagnosis of PCOS.

Further, clinicians should be cognizant of socio-environmental, genetic, as well as ethnocultural aspects that could impact diagnosis and treatment.⁵˒²⁴˒²⁵

Utilizing a biopsychosocial assessment approach that incorporates an individual patient’s circumstances should be considered. This model can enhance communication, build trust, and yield a more satisfactory evaluation for patients and clinicians.²⁶⁻²⁸