How to Assess and Diagnose the PCOS Patient
Polycystic Ovarian Syndrome (PCOS) is a prevalent disorder that affects 5-10% of women, with nearly 49% of those diagnosed also struggling with obesity. PCOS disrupts multiple systems in the body, including the endocrine system, reproductive, cardiovascular, dermatologic, and mental health.
PCOS manifests in a wide range of symptoms, including irregular or absent menstrual cycles, weight gain, acne, hirsutism, depression, anxiety, fatigue, obstructive sleep apnea, and fertility. Due to the variability of symptoms, it often takes up to two years for a woman to receive a diagnosis, and many will consult more than three clinicians in this time. It is thought that up to 70% of women with PCOS remain undiagnosed.
Adding to the complexity, women with PCOS are nearly three times more likely to experience disorders, depression, anxiety, and body image issues compared to those without the condition.
How do you diagnose 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 for PCOS
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.
Co-Occurring Conditions to Evaluate
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
Patients with PCOS need a thorough and comprehensive approach to be managed appropriately. While confirming the diagnosis using the Rotterdam criteria is the foundation to treat, we must not forget the other co-occurring disorders these patients are at risk for given the PCOS diagnosis, and manage with shared-decision making processes.
