What are the Rotterdam criteria for diagnosing Polycystic Ovary Syndrome (PCOS) and what are the management options?

Rotterdam Criteria for PCOS Diagnosis and Management

The Rotterdam criteria define Polycystic Ovary Syndrome (PCOS) as the presence of at least two of the following three criteria: oligo- or anovulation, clinical and/or biochemical signs of hyperandrogenism, and/or polycystic ovaries on ultrasound, with the exclusion of other relevant disorders. 1

Diagnostic Criteria Details

1. Oligo- or Anovulation

• Manifests as menstrual cycle anomalies
• Includes amenorrhea, oligomenorrhea, or long cycles

2. Clinical and/or Biochemical Hyperandrogenism

• Clinical signs: hirsutism, acne, male-pattern alopecia
• Biochemical signs: elevated serum androgens
• Note: Diagnosis of hirsutism should not be based solely on the Ferriman-Gallway score 2

3. Polycystic Ovarian Morphology (PCOM) on Ultrasound

• Defined as presence of at least one ovary with:
  • ≥20 follicles per ovary measuring 2-9mm in diameter (using endovaginal ultrasound transducers with frequency ≥8MHz) 1
  • and/or ovarian volume ≥10ml
  • Ensure no corpora lutea, cysts, or dominant follicles are present

Important Diagnostic Considerations

Ultrasound Recommendations

• Transvaginal approach is preferred if sexually active and acceptable to the patient 1
• For older technology (<8MHz), threshold for PCOM is ovarian volume ≥10ml 1
• Ultrasound should NOT be used for PCOS diagnosis in those <8 years after menarche due to high incidence of multi-follicular ovaries in this life stage 1
• For transabdominal ultrasound, focus on ovarian volume with threshold ≥10ml 1

Diagnostic Accuracy of Ultrasound Markers

• Follicle number per ovary (FNPO): Sensitivity 84.32%, Specificity 91.06% 1
• Ovarian volume (OV) in adults: Sensitivity 81.48%, Specificity 81.04% 1

Anti-Müllerian Hormone (AMH)

• AMH has been proposed as an alternative marker for PCOM
• However, serum AMH levels should not yet be used as an alternative for detecting PCOM or as a single test for PCOS diagnosis 1
• Standardization of assays and establishment of clear thresholds are still needed 3

Exclusion of Other Disorders

• Before confirming PCOS diagnosis, exclude other disorders that can cause similar symptoms:
  • Thyroid dysfunction
  • Hyperprolactinemia
  • Non-classic congenital adrenal hyperplasia
  • Androgen-secreting tumors
  • Cushing's syndrome

Differential Diagnosis Challenges

• Functional Hypothalamic Amenorrhea (FHA) with PCOM can be misclassified as PCOS phenotype D 1
• FHA patients typically have lower serum levels of estradiol, androgens, LH, and AMH compared to PCOS patients 1

Management Options

First-Line Management: Lifestyle Interventions

• Lifestyle management is the first-line approach in the intervention hierarchy for PCOS 1
• Focus on multicomponent lifestyle intervention including:
  • Diet modifications
  • Regular physical exercise
  • Behavioral strategies
• Weight management is crucial as obesity exacerbates insulin resistance, which worsens all PCOS symptoms 1

Metabolic Screening

• Routine screening for metabolic abnormalities should include:
  • Weight, height, BMI calculation
  • Waist circumference
  • Blood pressure
  • Laboratory parameters: plasma glucose, triglycerides, HDL cholesterol 2
• For patients with BMI >30 kg/m², oral glucose tolerance testing (OGTT) is recommended when fasting serum glucose is normal 2

Fertility Management

• Clomiphene citrate remains the first-line therapy for ovulation induction 2
• For patients with BMI >30 kg/m², ovulation induction should be preceded by lifestyle modifications to improve metabolic status 2

Common Pitfalls and Caveats

1. Overdiagnosis in adolescents: Avoid ultrasound in adolescents within 8 years of menarche due to high prevalence of polycystic ovaries in this age group 1, 3

2. Ultrasound limitations: Equipment advances increase sensitivity and follicle counts, making standardization challenging 1

3. Phenotypic variations: The Rotterdam criteria create additional phenotypes compared to the earlier NIH criteria, including:

   • Hyperandrogenic ovulatory women with polycystic ovaries
   • Oligoanovulatory women with polycystic ovaries but without hyperandrogenism 4, 5

4. Misdiagnosis of FHA as PCOS: Women with FHA and PCOM may be misclassified as PCOS phenotype D, despite having different hormonal profiles and metabolic characteristics 1

5. Insulin resistance assessment: Insulin resistance is present in PCOS regardless of BMI and contributes to hyperandrogenism through effects on the pituitary, liver, and ovaries 1

By following these diagnostic criteria and management approaches, clinicians can accurately diagnose PCOS and implement appropriate interventions to improve morbidity, mortality, and quality of life outcomes for patients with this common endocrine disorder.