What is the evaluation and treatment approach for a patient with suspected Polycystic Ovary Syndrome (PCOS)?

Evaluation for Suspected PCOS

Diagnose PCOS using the Rotterdam criteria requiring at least 2 of 3 features: chronic oligo-anovulation, clinical or biochemical hyperandrogenism, and polycystic ovarian morphology on ultrasound—after excluding other causes of hyperandrogenism and menstrual irregularity. 1, 2

Diagnostic Criteria and Clinical Assessment

Required Clinical Features (2 of 3 needed):

Oligo-anovulation:

• Menstrual cycle length >35 days indicates chronic anovulation 2
• Cycles between 32-35 days require assessment for ovulatory dysfunction 2
• Persistent oligomenorrhea 2-3 years beyond menarche predicts ongoing menstrual irregularities 2

Hyperandrogenism (Clinical or Biochemical):

• Hirsutism develops gradually and intensifies with weight gain 2
• Severe acne or acne resistant to isotretinoin carries 40% likelihood of PCOS 2
• Hair loss patterns include vertex, crown, or diffuse pattern; severe cases show bitemporal loss 2
• Acanthosis nigricans indicates underlying insulin resistance 1

Polycystic Ovarian Morphology:

• Do not use ultrasound in patients <8 years post-menarche due to high incidence of multifollicular ovaries in this age group 3
• Transvaginal ultrasound is preferred if sexually active and acceptable to the patient 3
• Using ≥8MHz transducers, PCOM threshold is ≥20 follicles per ovary (2-9mm) and/or ovarian volume ≥10mL 3
• Transabdominal ultrasound should focus on ovarian volume ≥10mL given difficulty assessing follicle count 3
• In patients with irregular cycles AND hyperandrogenism, ultrasound is not necessary for diagnosis but identifies complete phenotype 3

Laboratory Evaluation

Essential Hormonal Testing:

Androgen Assessment:

• Free testosterone is more sensitive than total testosterone for establishing androgen excess 2
• Ideally measure through equilibrium dialysis techniques 2
• Total testosterone or free/bioavailable testosterone assesses androgen excess severity 1

Exclusion of Other Disorders:

• Thyroid-stimulating hormone and prolactin levels exclude other causes of hyperandrogenism 1
• 17-hydroxyprogesterone is useful for determining PCOS diagnosis 2

AMH Testing:

• Do not use serum AMH as alternative for detecting PCOM or as single diagnostic test 3
• Emerging evidence suggests future utility with improved standardization 3

Metabolic Screening (All Patients):

Diabetes Assessment:

• Screen all women with PCOS using fasting glucose AND 2-hour oral glucose tolerance test 1, 4
• Insulin resistance occurs in significant proportion, increasing diabetes risk 1

Cardiovascular Risk:

• Fasting lipid profile to assess cardiovascular risk 1, 4
• Regular blood pressure monitoring due to increased cardiovascular disease risk 1

Special Populations

Adolescents (<17 years):

• Do not use ultrasound as first-line investigation due to common finding of large multicystic ovaries 2
• Base diagnosis on oligomenorrhea and/or biochemical evidence of oligo/anovulation 2
• Major limitations exist in testosterone assay sensitivity for young girls 2
• Persistent oligomenorrhea 2-3 years beyond menarche predicts ongoing dysfunction 2

Phenotype Classification

Document specific phenotype when making diagnosis: 5

• Phenotype A: Hyperandrogenism + oligo-anovulation + PCOM
• Phenotype B: Hyperandrogenism + oligo-anovulation (normal ovaries)
• Phenotype C: Hyperandrogenism + PCOM (ovulatory)
• Phenotype D: Oligo-anovulation + PCOM (normal androgens)

Each phenotype carries different long-term health and metabolic implications 5

Critical Pitfalls to Avoid

Rapid-onset virilization with clitoromegaly suggests neoplastic virilizing states, not PCOS 2

Normal puberty mimics PCOS features: acne, menstrual irregularities, and hyperinsulinemia are common in normal puberty 2

Anovulatory cycles are normal 2-3 years post-menarche due to hypothalamic-pituitary-ovarian axis immaturity 2