What laboratory tests are recommended for the diagnosis and management of Polycystic Ovary Syndrome (PCOS)?

From the Guidelines

The diagnosis and management of Polycystic Ovary Syndrome (PCOS) requires several key laboratory tests, including total and free testosterone, sex hormone-binding globulin (SHBG), androstenedione, and dehydroepiandrosterone sulfate (DHEAS) to assess hyperandrogenism, as recommended by the most recent and highest quality study 1.

Key Laboratory Tests for PCOS Diagnosis

• Total testosterone (TT) and calculated free testosterone (cFT) are the first-line laboratory tests to assess biochemical hyperandrogenism in PCOS diagnosis, with cFT assessed by equilibrium dialysis or ammonium sulfate precipitation, or calculated using free androgen index (FAI) 1
• Luteinizing hormone (LH) and follicle-stimulating hormone (FSH) should be measured, with an LH:FSH ratio greater than 2:1 often suggesting PCOS
• A 17-hydroxyprogesterone test helps exclude congenital adrenal hyperplasia
• Metabolic evaluation is essential, including a 2-hour oral glucose tolerance test with insulin levels, fasting glucose, HbA1c, and lipid profile (total cholesterol, HDL, LDL, triglycerides) to assess insulin resistance and cardiovascular risk, as recommended by 1
• Thyroid function tests (TSH, free T4) and prolactin levels should be checked to rule out other conditions that mimic PCOS
• For women with amenorrhea, a pregnancy test and endometrial assessment may be necessary

Additional Considerations

• Anti-Müllerian hormone (AMH) may be useful in PCOS diagnosis, but its role is still being researched and it is not currently recommended as a first-line test 1
• Lifestyle management, including weight loss and exercise, is an important aspect of PCOS management, as recommended by 1
• Regular monitoring should include annual metabolic screening and hormone level assessment every 6-12 months to track treatment effectiveness.

From the Research

Laboratory Tests for PCOS Diagnosis

The following laboratory tests are recommended for the diagnosis and management of Polycystic Ovary Syndrome (PCOS):

• Hormone tests:
  • Follicle-stimulating hormone (FSH) 2, 3, 4, 5, 6
  • Luteinizing hormone (LH) 2, 3, 4, 5, 6
  • LH/FSH ratio 2, 3, 4, 5, 6
  • Total testosterone 2, 3, 5, 6
  • Free testosterone 6
  • Sex hormone-binding globulin (SHBG) 2, 6
  • Androstenedione 6
  • Dehydroepiandrosterone sulfate (DHEA-S) 3, 6
  • Anti-Müllerian hormone (AMH) 4, 5
• Metabolic tests:
  • Fasting blood glucose (FBG) 2, 5
  • Random glucose 2
  • HbA1c 2
  • Lipid profile:
    • Total cholesterol (TC) 5
    • High-density lipoprotein cholesterol (HDL-C) 5
    • Low-density lipoprotein cholesterol (LDL-C) 5
    • Triglyceride (TG) 5
    • Very-low-density lipoprotein cholesterol (VLDL-C) 5
• Other tests:
  • Pelvic ultrasound scan 2, 3
  • Vitamin D level 5

Rationale for Test Selection

The selection of these tests is based on the findings of several studies, which suggest that:

• Hormone tests, particularly total testosterone, androstenedione, and LH, are useful in diagnosing PCOS 6
• The LH/FSH ratio is not a reliable diagnostic criterion due to its low sensitivity 6
• Metabolic tests, such as FBG and lipid profile, are important in assessing the risk of metabolic complications in PCOS patients 2, 5
• Pelvic ultrasound scan is useful in evaluating ovarian morphology and excluding other causes of infertility 2, 3
• Vitamin D level may be relevant in PCOS diagnosis and management, as vitamin D deficiency has been linked to metabolic and hormonal abnormalities in PCOS patients 5