Diagnostic Criteria for Polycystic Ovary Syndrome (PCOS)
According to the Rotterdam criteria, PCOS is diagnosed when at least two of the following three features are present: oligo- or anovulation, clinical and/or biochemical signs of hyperandrogenism, and polycystic ovaries on ultrasound, after exclusion of other relevant disorders. 1
Core Diagnostic Criteria
Oligo- or Anovulation
- Manifests as menstrual cycle anomalies
- Includes amenorrhea, oligomenorrhea (cycles >35 days), or long cycles
- Can be assessed through menstrual history
Hyperandrogenism
- Clinical signs:
- Hirsutism (excessive hair growth in male pattern distribution)
- Acne
- Male pattern hair loss
- Biochemical signs:
- Elevated total or free testosterone
- Elevated androstenedione
- Elevated DHEAS
- Clinical signs:
Polycystic Ovarian Morphology (PCOM) on Ultrasound
Important Exclusions
Before confirming PCOS diagnosis, other disorders with similar presentations must be ruled out:
- Thyroid dysfunction
- Hyperprolactinemia
- Congenital adrenal hyperplasia
- Cushing's syndrome
- Androgen-secreting tumors
- Idiopathic hirsutism
Special Considerations
Adolescents
- Ultrasound is not recommended for PCOS diagnosis within 8 years of menarche 1
- Diagnosis should rely more on clinical and biochemical hyperandrogenism and menstrual irregularities
- Multi-follicular appearance on ultrasound can overlap with PCOM diagnostic cutoffs in adolescents 1
Older Women
- PCOM cutoff values might be considerably lower in older women with PCOS 1
- Age-specific criteria may be needed for accurate diagnosis
Diagnostic Challenges and Pitfalls
Ultrasound Limitations
Anti-Müllerian Hormone (AMH)
- Proposed as a potential alternative to ultrasound for PCOM detection
- Higher in women with PCOS compared to normal ovulatory women
- Currently lacks standardized cutoffs and validation for routine clinical use 1
- May replace ultrasound in PCOS diagnosis once standardization issues are addressed
Phenotypic Variations
- The Rotterdam criteria create additional phenotypes compared to older NIH criteria:
- Women with hyperandrogenism and polycystic ovaries but normal ovulation
- Women with ovulatory dysfunction and polycystic ovaries but no hyperandrogenism
- These phenotypes may have different metabolic and reproductive risks 3, 4
- The Rotterdam criteria create additional phenotypes compared to older NIH criteria:
Recommended Metabolic Screening
Once PCOS is diagnosed, systematic screening for metabolic abnormalities should include:
- Weight, height, BMI calculation
- Waist circumference measurement
- Blood pressure
- Laboratory parameters:
- Fasting plasma glucose
- Triglycerides
- HDL cholesterol 2
- Oral glucose tolerance test (OGTT) for patients with BMI >30 kg/m² and normal fasting glucose 2
Diagnostic Algorithm
Initial Assessment:
- Document menstrual pattern (frequency, regularity)
- Assess for clinical signs of hyperandrogenism
- Measure serum androgens (total/free testosterone)
If one criterion is present:
- Proceed to transvaginal ultrasound (if >8 years post-menarche)
- Assess ovarian morphology using standardized criteria
If two criteria are present:
- Proceed to exclusion of other disorders
- Thyroid function tests, prolactin, 17-hydroxyprogesterone
If other disorders excluded and two criteria confirmed:
- Diagnose PCOS
- Proceed to metabolic screening
- Initiate appropriate management
By following these diagnostic criteria systematically, clinicians can accurately diagnose PCOS and initiate appropriate management to address both reproductive and metabolic aspects of the syndrome.