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Understanding the Complexities of Assessing and Diagnosing PCOS

Polycystic Ovary Syndrome (PCOS) affects around 10% of women of reproductive age, making it one of the most common endocrine disorders. Despite its frequency, the path to a PCOS diagnosis can be a winding journey due to its diverse symptoms. In this discussion, we unravel the layers involved in identifying and diagnosing this multifaceted condition, providing a clearer understanding for those affected and those who care for them.


What is PCOS?


Polycystic Ovary Syndrome is marked by hormonal imbalances that can create a host of health complications. Symptoms can vary widely but often include irregular menstrual cycles, excessive hair growth, acne, and weight changes. For instance, studies show that nearly 70% of women with PCOS struggle with weight gain or obesity, complicating the condition further. Acknowledging these hormonal fluctuations is essential for effective management and treatment.


Moreover, untreated PCOS can lead to long-term health risks, such as a 70% increased risk of developing type 2 diabetes and a heightened chance of heart disease. This underscores the importance of early assessment and diagnosis.


Symptoms of PCOS


Recognizing PCOS symptoms is crucial. The most common indicators include:


  • Irregular Menstrual Cycles: Women may experience cycles longer than 35 days or miss periods entirely, hinting at irregular ovulation.


  • Hyperandrogenism: Symptoms such as hirsutism (unwanted facial and body hair) and persistent acne reflect elevated male hormone levels.


  • Polycystic Ovaries: An ultrasound might reveal enlarged ovaries with numerous cysts, but it’s important to know that not everyone with PCOS presents these cysts.


While these signs are helpful, they alone do not lead to a definitive diagnosis, and additional assessments are typically needed.


Initial Assessment and Family History


The journey towards a PCOS diagnosis often starts with a detailed review of medical and family history. Genetic factors play a role; women with a family history of PCOS or similar symptoms might be at increased risk.


During this process, healthcare providers will ask about the timing, nature of menstrual irregularities, and any associated health issues, such as weight changes or mood swings. For example, women may report noticeable changes in their cycle after significant life events like weight gain or stress, which can provide essential clues to healthcare providers.


Physical Examination


A thorough physical exam is a cornerstone of assessing PCOS. Physicians look for signs of excess androgen, such as hirsutism or acne, and check body weight. In fact, according to research, about 50% of women with PCOS may have a BMI over 30.


Body Mass Index (BMI) measurements play a crucial role, as obesity not only affects the body’s hormonal balance but can also amplify PCOS symptoms, creating a cycle that can be hard to break.


Diagnosis of PCOS


Rotterdam Criteria is the gold standard for diagnosing PCOS. A diagnosis requires the presence of at least two of the following three criteria: 

  • Oligo- and/or anovulation (irregular cycles or absent periods)

  • Clinical and or biochemical signs of hyperandrogenism (e.g. acne, hirsutism, and/or male pattern hair loss)

  • Polycystic Ovaries by ultrasound OR by elevated AMH


Lab Testing


Lab tests are typically performed only in women who are not using hormonal contraception. A general approach is to advise patients to stop hormonal birth control and wait for at least one menstrual cycle prior to checking, or 4-6 weeks before drawing labs if they don’t have regular cycles. 


Key Labs to Consider: 

  • Anti-Müllerian Hormone (AMH): AMH concentrations are generally in the upper range of normal or elevated in women with PCOS, but at this time AMH labs are limited by the absence of an international standard, and are not part of the laboratory evaluation of PCOS. *Per the new guidelines AMH can be used as a surrogate for ultrasound

  • Free and Total Testosterone:  Measurement of these hormones can help assess the presence of hyperandrogenism, a hallmark symptom of PCOS.

  • Sex Hormone Binding Globulin (SHBG): May be helpful in that if a woman with PCOS  has an abnormally low SHBG it is a risk factor for increased biologically active testosterone, and a more severe PCOS phenotype. 

  • Androstenedione while the role of Androstenedione is unclear, it can be helpful to confirm hyperandrogensim. 

  • DHEA-S: Not recommended for routine measurement because mildly elevated levels are unlikely to affect management. However, it is recommended to measure in severe hyperandrogenism because it can be extremely high in someone with an adrenocortical carcinoma. If testosterone is normal but you still suspect PCOS, check DHEA-S and androstenedione


Additional Labs to Rule Out Other Causes of Oligomenorrhea:

  • Hcg: to exclude  pregnancy. 

  • Prolactin to rule out any hyperprolactinemia disorders. 

  • Serum 17-Hydroxyprogesterone: Measurement in the morning during the early follicular phase is recommended to rule out nonclassic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency. For women without regular cycles, this test can be done on any day.

  • TSH: To assess thyroid function (hypothyroidism or hyperthyroidism). 

  • FSH/LH to rule out other hormonal causes of amenorrhea 


Key Considerations

  • If someone has severe or rapidly worsening symptoms (especially hyperandrogenic) they should be worked up for androgen-secreting ovarian or adrenal tumors.  

  • It’s important to note that menstrual disorders and ovulatory dysfunction are normal in the first year post menarche as part of the pubertal transition.diagnosis.


Ultrasound Imaging


Ultrasound serves as a critical tool in the PCOS diagnostic process. A transvaginal ultrasound can help visualize the ovaries and identify any cysts. However, it's important to note that not all women with PCOS will have polycystic ovaries, contributing to the challenges in making a definitive diagnosis.


Eye-level view of a medical ultrasound device displaying ovarian images
Ultrasound imaging provides essential insights into ovarian health.

Differential Diagnosis


Identifying PCOS requires distinguishing it from other conditions that can present with similar symptoms.


Cardiometabolic assessment

  • Lipids, Blood Pressure, Waist Circumference, Waist to Hip Ratio, 2hr Glucose Tolerance Test, Hemoglobin A1c, Homa-IR (insulin resistance)

  • Screening for mood disorders using PHQ-9 and GAD-7

  • Fatty liver

    • CMP, Liver Ultrasound [if indicated]

  • Obstructive sleep apnea Screening

    • Use the STOP-BANG questionnaire and/or refer for a sleep study

  • Obesity

  • Type 2 diabetes

  • Dyslipidemia

  • Coronary heart disease

  • Vitamin D Deficiency 

  • Eating Disorders

    • Eat-26, Scoff, Binge Eating


Healthcare providers often use the Rotterdam criteria for diagnosis, which includes assessing ovarian dysfunction, signs of hyperandrogenism, and the presence of polycystic ovaries. A confirmed diagnosis typically requires meeting two out of these three criteria.


Challenges in Diagnosis


Diagnosing PCOS is complex due to the symptom variability among individuals and the overlap with other disorders. Many women may not seek help until they experience significant symptoms, making timely intervention difficult.


By raising awareness about PCOS and encouraging women to discuss their symptoms with healthcare providers earlier, we can improve recognition and management of this condition.


Navigating the PCOS Diagnostic Process


Understanding how to navigate the PCOS diagnostic landscape is essential for women experiencing symptoms. The path involves comprehensive assessments and a collaborative approach between healthcare providers and patients. Early diagnosis allows for timely interventions, which can include lifestyle changes and medical treatments tailored to individual needs.


Women with symptoms of PCOS should consult with healthcare professionals for personalized assessments and treatment options to take charge of their health and well-being. By fostering awareness, we can create a supportive environment that empowers those affected by PCOS with a shared decision making process.


 
 
 

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