Diagnostic Criteria for PCOS with Hirsutism
Primary Hormone Panel
- Total testosterone (TT) has high specificity (86%) and good sensitivity (74%) for diagnosing biochemical hyperandrogenism in PCOS, according to the American College of Obstetricians and Gynecologists 1
- Free testosterone (FT) should be assessed by equilibrium dialysis or calculated using the Free Androgen Index (FAI), as recommended by the Endocrine Society 1, 2
- Sex hormone binding globulin (SHBG) is important for calculating FAI and evaluating bioavailable testosterone, as noted by the American Academy of Family Physicians 3
- Luteinizing hormone (LH) and follicle-stimulating hormone (FSH) should be measured to assess ovarian function and LH:FSH ratio, as suggested by the American College of Obstetricians and Gynecologists 3
Secondary Hormone Tests to Consider
- Androstenedione (A4) has sensitivity of 75% but lower specificity (71%) for diagnosing biochemical hyperandrogenism in PCOS, according to the American College of Obstetricians and Gynecologists 1, 2
- Dehydroepiandrosterone sulfate (DHEAS) is useful to identify adrenal sources of androgens, though with lower specificity (67%), as noted by the Endocrine Society 1, 2
Testing Methods
- Liquid chromatography with tandem mass spectrometry (LC-MS/MS) is the preferred method for measuring androgens due to superior sensitivity and specificity compared to immunoassays, as recommended by the American College of Obstetricians and Gynecologists 1, 2
- If LC-MS/MS is unavailable, FAI can be employed as an alternative to direct FT measurement, as suggested by the Endocrine Society 2
Additional Tests to Rule Out Other Conditions
- Thyroid-stimulating hormone (TSH) should be measured to exclude thyroid disease, as recommended by the American Academy of Family Physicians 3
- Prolactin should be measured to rule out hyperprolactinemia, as suggested by the American College of Obstetricians and Gynecologists 3
- A two-hour oral glucose tolerance test should be performed to screen for diabetes risk, as recommended by the American Diabetes Association 3
- A fasting lipid profile should be assessed to evaluate cardiovascular risk factors, as suggested by the American Heart Association 3
Special Considerations for Differential Diagnosis
- For patients with features suggesting Cushing's syndrome, screening for this condition should be considered, as recommended by the Endocrine Society 3
- For suspected non-classic congenital adrenal hyperplasia, 17-hydroxyprogesterone testing should be considered, as suggested by the American Academy of Dermatology 4
- For prepubertal children with hirsutism, growth charts and bone age assessment should be performed before specific hormonal testing, as recommended by the American Academy of Pediatrics 4
Interpretation Considerations
- The diagnostic accuracy of total testosterone has been shown to be higher when using Rotterdam criteria (sensitivity 77%, specificity 83%) compared to NIH criteria (sensitivity 51%, specificity 94%), as noted by the American College of Obstetricians and Gynecologists 5
- Anti-Müllerian hormone (AMH) should not yet be used as a single test for PCOS diagnosis despite its correlation with polycystic ovary morphology, as recommended by the Endocrine Society 6, 7
Common Pitfalls and Caveats
- Direct immunoassay methods for measuring free testosterone are highly inaccurate due to low serum concentrations, as noted by the American College of Obstetricians and Gynecologists 1
- Testosterone levels may be affected by fluctuations in SHBG, which can be influenced by age, weight, and medications, as suggested by the Endocrine Society 1