PCOS Diagnostic Criteria and Management
Diagnostic Criteria
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
Clinical and Laboratory Assessment
Measure total or free testosterone using mass spectrometry (LC-MS/MS), which demonstrates superior specificity (92%) compared to direct immunoassays (78%). 1
Obtain TSH to exclude thyroid disease as a cause of menstrual irregularity. 2, 1
Measure prolactin levels to exclude hyperprolactinemia. 2, 1
Perform a 2-hour oral glucose tolerance test (75g glucose load) following fasting glucose to detect type 2 diabetes and glucose intolerance in all women with PCOS, regardless of BMI. 2, 3, 1
Obtain fasting lipid profile including total cholesterol, LDL, HDL, and triglycerides, as insulin resistance drives dyslipidemia with elevated triglycerides and decreased HDL. 3
Measure 17-hydroxyprogesterone to exclude congenital adrenal hyperplasia. 1
Physical Examination Findings
Document acne, balding, or clitoromegaly as signs of androgen excess. 2
Assess distribution of body hair for hirsutism patterns. 2
Look for acanthosis nigricans on the neck, axillae, under breasts, or vulva, which indicates underlying insulin resistance. 2, 3, 1 When present, consider associated insulinoma or malignancy, particularly gastric adenocarcinoma. 2, 3
Calculate BMI and waist-to-hip ratio to evaluate central obesity. 3, 1
Ultrasound Criteria
When hyperandrogenism and ovulatory dysfunction are both present, ultrasound is not necessary for diagnosis in adult women. 4
Do not use ultrasound for diagnosis in patients within 8 years of menarche due to high incidence of multifollicular ovaries at this stage. 1
Polycystic ovarian morphology is defined as ≥20 follicles per ovary and/or ovarian volume ≥10 mL, with no corpus luteum, cyst, or dominant follicle present. 1
Use transvaginal approach if the patient is sexually active and it is acceptable to her, with endovaginal transducers including a frequency of 8 MHz. 1
Exclusion of Other Causes
Screen for Cushing's syndrome with dexamethasone suppression test in women with buffalo hump, moon facies, hypertension, abdominal striae, centripetal fat distribution, easy bruising, or proximal myopathies. 2, 1
Management Approach
First-Line: Lifestyle Modification
Initiate multicomponent lifestyle intervention before or concurrent with any pharmacologic therapy, as this is the foundation of treatment. 3
Target weight loss of just 5% of initial body weight, which improves metabolic parameters, ovulation rates, and pregnancy outcomes. 2, 3
Implement diet, exercise, and behavioral strategies together rather than any single component. 3
Emphasize regular exercise even without weight loss, as it is reasonable to assume positive effects. 2
Management for Specific Indications
For Women Seeking Pregnancy
Begin with weight control and regular exercise, then proceed to medication if needed. 2
First-Line Ovulation Induction
Use letrozole as first-line treatment for infertility, as it improves live birth rates while reducing multiple pregnancies compared with clomiphene citrate. 4
Clomiphene citrate remains effective when used in women with PCOS, with approximately 80% ovulating and half of these conceiving. 2
Second-Line Options
If clomiphene treatment fails, use low-dose gonadotropin therapy rather than high-dose, because low-dose treatment induces high rates of monofollicular development with lower risk of ovarian hyperstimulation. 2
Metformin improves ovulation rates, though its effects on early pregnancy are not fully known; metformin appears to be safe. 2, 3
The benefit and role of laparoscopic ovarian drilling (by laser or diathermy) are undetermined. 2
For Women Not Seeking Pregnancy
Menstrual Regulation and Endometrial Protection
Use combination oral contraceptive pills as first-line for menstrual regulation and androgen suppression, though be aware they may increase triglycerides and HDL cholesterol despite no evidence of increased cardiovascular events compared to the general population. 3
Insulin Resistance Management
Use metformin as the preferred insulin-sensitizing agent when pharmacologic intervention is warranted, despite lack of FDA approval specifically for PCOS. 3
Metformin decreases circulating androgen levels through improved insulin sensitivity. 3
Metformin improves or maintains glucose tolerance over time and tends to decrease weight, unlike thiazolidinediones which increase weight. 3
Do not use thiazolidinediones as first-line agents given their tendency to increase weight and variable risk-benefit profiles compared to metformin. 3
Hirsutism Management
Treatment is often palliative rather than curative, and combined medical interventions may be most effective. 2
Pharmacologic Options
The combination of an antiandrogen and an ovarian suppression agent appears effective, though the best oral contraceptive pill or antiandrogen agent is not known. 2
Agents used include oral contraceptives, antiandrogen drugs (spironolactone, flutamide, finasteride), insulin-sensitizing agents, and eflornithine. 2
Only topical eflornithine hydrochloride cream has FDA labeling for treatment of hirsutism; additional benefits or risks for use in women with PCOS are unknown. 2
Mechanical Options
Mechanical removal of hair (plucking, shaving, waxing), electrolysis, and laser vaporization are used to manage hirsutism. 2
Electrolysis may be impractical for removing large numbers of hairs, and multiple electrolysis or laser treatments may be needed. 2
Concomitant medical management directed at reducing androgen levels is usually necessary with mechanical approaches. 2
Long-Term Surveillance and Risk Management
Metabolic Screening
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. 3, 1
Perform regular glucose tolerance testing, especially in obese women, because of potential for rapid progression from normal to impaired glucose tolerance and diabetes. 1
Monitor fasting lipid profiles regularly, as insulin resistance in PCOS creates a particularly atherogenic lipid profile requiring monitoring. 3
Cardiovascular Risk
Women with PCOS have risk factors for cardiovascular disease including dyslipidemia with borderline or high lipid levels and disproportionately elevated LDL cholesterol levels. 2
Endometrial Cancer Risk
Obesity, chronic anovulation, and hyperinsulinemia with decreased sex hormone binding globulin are associated with endometrial cancer. 2
Common Pitfalls to Avoid
Do not overlook acanthosis nigricans, as it may indicate associated insulinoma or malignancy, particularly gastric adenocarcinoma. 2, 3
Do not skip lipid screening—insulin resistance in PCOS creates a particularly atherogenic lipid profile requiring monitoring. 3
Do not use ultrasound in adolescents within 8 years of menarche for diagnosis due to overlap with normal ovarian physiology. 1
Do not use serum anti-Müllerian hormone (AMH) levels as an alternative for detecting polycystic ovarian morphology or as a single test for PCOS diagnosis. 1