What are the diagnostic criteria and management options for Polycystic Ovary Syndrome (PCOS)?

PCOS Diagnosis

Diagnose PCOS in adult women using the Rotterdam criteria, requiring any 2 of 3 features: hyperandrogenism (clinical or biochemical), irregular menstrual cycles, and polycystic ovary morphology on ultrasound. 1

Diagnostic Criteria by Age Group

Adult Women (≥18 years)

Apply the Rotterdam criteria requiring 2 of the following 3 features: 1

• Hyperandrogenism: Clinical signs (hirsutism, acne, male-pattern hair loss) or biochemical elevation of androgens 1, 2
• Oligo-anovulation: Irregular menstrual cycles indicating chronic anovulation 1, 3
• Polycystic ovary morphology: Documented on pelvic ultrasound 1

Adolescent Girls (<20 years, ≥1 year post-menarche)

Require BOTH of the following criteria (do not use ovarian morphology): 4

• Menstrual irregularity persisting beyond normal pubertal transition 4
• Clinical hyperandrogenism and/or hyperandrogenemia 4

Ovarian morphology should not be included in adolescent diagnosis due to poor specificity, as polycystic ovaries are common during normal puberty 5, 4. Girls meeting these criteria can be considered "at risk for PCOS" even before definitive diagnosis 4.

Essential History Components

Document the following specific elements: 5

• Onset and duration of androgen excess signs 5
• Detailed menstrual history including cycle regularity 5
• Current medications, particularly exogenous androgens 5
• Lifestyle factors: diet, exercise, alcohol use, smoking 5
• Family history of cardiovascular disease and diabetes 5

Physical Examination Findings

Assess for these specific features: 5

• Androgen excess signs: Acne, balding, clitoromegaly, body hair distribution 5
• Insulin resistance markers: Central obesity, acanthosis nigricans (neck, axillae, beneath breasts, vulva) 5, 6
• Ovarian enlargement: Detected on pelvic examination 5

Critical pitfall: When acanthosis nigricans is present, consider associated insulinoma or malignancy, particularly gastric adenocarcinoma 5, 6.

Laboratory Evaluation

Mandatory Tests to Confirm Diagnosis

Obtain the following to establish hyperandrogenism and exclude mimics: 5, 3

• Total testosterone or bioavailable/free testosterone levels 5, 3
• Thyroid-stimulating hormone (exclude thyroid disease) 5, 3
• Prolactin level (exclude hyperprolactinemia) 5, 3
• 17-hydroxyprogesterone (exclude nonclassic congenital adrenal hyperplasia) 3
• DHEA sulfate (exclude androgen-secreting tumors) 3

Metabolic Screening (All Patients Regardless of BMI)

Screen every PCOS patient for metabolic dysfunction independent of body weight: 6

• Glucose assessment: Fasting glucose followed by 2-hour glucose level after 75-gram oral glucose load 5, 6
• Lipid profile: Fasting total cholesterol, LDL, HDL, and triglycerides 6
• Anthropometric measures: BMI and waist-hip ratio 6

Insulin resistance occurs independent of BMI and affects both lean and overweight women, making universal metabolic screening essential 6.

Ultrasonographic Criteria

Most Accurate Marker

Follicle number per ovary (FNPO) is the most accurate ultrasonographic marker for PCOS diagnosis. 5 When accurate FNPO measurement is not possible, use ovarian volume (OV) or follicle number per single cross-section (FNPS) as alternatives 5.

Technical Considerations

• Use transvaginal ultrasound in adults 5
• Use transabdominal or transrectal ultrasound in adolescents 5
• Offline analysis improves diagnostic accuracy compared to real-time approaches for FNPO 5
• Present measurements as maximum value or average between ovaries, though left-right differences exist for OV and FNPS 5

Important limitation: Most ultrasound studies have high risk of bias due to non-randomized design and lack of standardized thresholds 5. Raters should be blinded to patient phenotype when interpreting images 5.

Differential Diagnosis - Conditions to Exclude

Rule out these androgen excess disorders before confirming PCOS: 5

• Cushing's syndrome (screen if buffalo hump, moon facies, hypertension, abdominal striae, centripetal fat distribution, easy bruising, or proximal myopathies present) 5
• Androgen-secreting tumors of ovary or adrenal gland 5
• Nonclassic (late-onset) congenital adrenal hyperplasia 5, 3
• Exogenous androgen use 5
• Acromegaly 5
• Primary hypothalamic amenorrhea 5
• Primary ovarian failure 5

Management Framework

First-Line: Lifestyle Intervention

Initiate multicomponent lifestyle intervention before or concurrent with any pharmacologic therapy. 6 Target just 5% weight loss, which improves metabolic parameters, ovulation rates, and pregnancy outcomes 6. Implement diet, exercise, and behavioral strategies together rather than any single component 6.

Pharmacologic Management

For insulin resistance and metabolic features:

• Metformin is the preferred insulin-sensitizing agent despite lack of FDA approval specifically for PCOS 6
• Metformin decreases circulating androgens, improves glucose tolerance, enhances ovulation rates, and tends to decrease weight 6
• Avoid thiazolidinediones as first-line agents given their tendency to increase weight 6

For menstrual regulation and androgen suppression (when not attempting conception):

• Combined oral contraceptive pills remain first-line 6
• Be aware OCPs may increase triglycerides and HDL cholesterol, though no evidence shows increased cardiovascular events compared to general population 6

For refractory hyperandrogenism:

• Cyproterone (alone or with ethinylestradiol) and spironolactone are main treatments 2
• Consider flutamide, ketoconazole, or finasteride as alternatives 2

For ovulation induction:

• Weight loss (if overweight), clomiphene citrate, and/or metformin 2, 7

Long-Term Surveillance

Conduct ongoing monitoring for: 2

• Impaired glucose tolerance progression (particularly in obese women, who may rapidly progress from normal to impaired glucose tolerance to diabetes) 2
• Dyslipidemia 2
• Endometrial hyperplasia (due to chronic anovulation) 5, 2
• Obstructive sleep apnea 7
• Depression and eating disorders 7