What are the diagnostic criteria and management options for Polycystic Ovary Disorder (PCOD)?

Diagnosis of Polycystic Ovary Syndrome (PCOS)

PCOS diagnosis requires at least two of three criteria: hyperandrogenism (clinical or biochemical), ovulatory dysfunction (oligo- or anovulation), and polycystic ovarian morphology on ultrasound, after excluding other causes of androgen excess. 1, 2

Diagnostic Criteria

Core Clinical Features (Need 2 of 3)

• Hyperandrogenism can be established clinically through hirsutism, acne resistant to standard treatments, or androgenic alopecia (vertex, crown, or bitemporal pattern), or biochemically through elevated testosterone levels 1, 2, 3

• Ovulatory dysfunction is indicated by menstrual cycles longer than 35 days, though cycles between 32-35 days warrant evaluation for anovulation 3

• Polycystic ovarian morphology is defined as ≥20 follicles per ovary (updated to ≥25 follicles with newer ultrasound machines) and/or ovarian volume ≥10 mL, with no corpus luteum, cyst, or dominant follicle present 1, 4

Biochemical Testing

• Measure total or free testosterone using liquid chromatography-tandem mass spectrometry (LC-MS/MS), which demonstrates 92% specificity compared to 78% for direct immunoassays; free testosterone is more sensitive than total testosterone for detecting androgen excess 1, 2, 3

• Obtain TSH to exclude thyroid disease as a cause of menstrual irregularity 1, 2

• Measure prolactin levels to exclude hyperprolactinemia 1, 2

• Measure 17-hydroxyprogesterone to exclude congenital adrenal hyperplasia 1, 2

• Consider dexamethasone suppression test if clinical features suggest Cushing's syndrome 1

Ultrasound Evaluation

• Transvaginal ultrasound should be prioritized in sexually active patients using endovaginal transducers with frequency of 8 MHz 1

• Ultrasound is not necessary for diagnosis when both irregular cycles and hyperandrogenism are present, though it identifies the complete PCOS phenotype 1

• Ultrasound should not be used for diagnosis in patients with gynecological age <8 years (within 8 years of menarche) due to high incidence of multifollicular ovaries during normal pubertal development 1, 5

• Anti-Müllerian hormone (AMH) should not be used as an alternative for detecting polycystic ovarian morphology or as a single diagnostic test for PCOS 1

Metabolic and Cardiovascular Screening

Mandatory Metabolic Evaluation

• Perform 2-hour oral glucose tolerance test (75g) to detect type 2 diabetes and glucose intolerance in all women with PCOS, regardless of BMI 1, 2

• Screen all women with PCOS for metabolic dysfunction regardless of body weight, as insulin resistance occurs independently of BMI and affects both lean and overweight women 1, 2

• Obtain fasting lipid profile including total cholesterol, LDL, HDL, and triglycerides, as insulin resistance drives dyslipidemia 2

Physical Examination Findings

• Calculate BMI and waist-to-hip ratio to evaluate central obesity 1

• Look for acanthosis nigricans on the neck, axillae, under breasts, and vulva, which indicates underlying insulin resistance 1, 2

• Document acne, androgenic alopecia, or clitoromegaly as signs of androgen excess 2

• Assess distribution of body hair for hirsutism patterns; severe acne resistant to isotretinoin carries a 40% likelihood of PCOS 2, 3

Special Considerations for Adolescents

• Diagnosis in adolescents requires only two criteria: hyperandrogenism and irregular cycles (menstrual irregularity and clinical hyperandrogenism and/or hyperandrogenemia) 1, 5

• Ultrasound findings are not needed for PCOS diagnosis in adolescent girls under age 17 years, as large multicystic ovaries are common findings during normal puberty 3, 5

• Persistent oligomenorrhea 2-3 years beyond menarche predicts ongoing menstrual irregularities and greater likelihood of underlying ovarian or adrenal dysfunction 3, 5

Common Diagnostic Pitfalls

• Avoid diagnosing PCOS during the first 2-3 years post-menarche, as menstrual irregularities with anovulatory cycles are common due to immaturity of the hypothalamic-pituitary-ovarian axis 3, 5

• Do not rely on direct immunoassays for testosterone measurement, as they have inferior specificity compared to mass spectrometry 1, 2

• Exclude other causes of hyperandrogenism including congenital adrenal hyperplasia, Cushing's syndrome, thyroid disease, and hyperprolactinemia before confirming PCOS diagnosis 1, 2

• Recognize that rapid-onset hirsutism with clitoromegaly suggests neoplastic virilizing states rather than PCOS, which develops gradually and intensifies with weight gain 3