From the Guidelines
The diagnostic evaluation for Polycystic Ovary Syndrome (PCOS) typically involves a combination of clinical assessment, blood tests to measure hormone levels, and transvaginal ultrasound to visualize the ovaries, as recommended by the most recent guidelines 1. The diagnostic process begins with a thorough medical history and physical examination to identify signs of hyperandrogenism, such as hirsutism, acne, or androgenic alopecia. Blood tests are then performed to measure hormone levels, including:
- Testosterone
- Androstenedione
- DHEAS
- LH
- FSH
- Estradiol
- Prolactin These tests help identify hormonal imbalances characteristic of PCOS, such as elevated androgens and luteinizing hormone. A transvaginal ultrasound is often performed to visualize the ovaries and check for multiple small follicles (cysts) and increased ovarian volume, which are hallmark features of PCOS, as supported by the latest systematic review and diagnostic meta-analysis on ultrasonographic criteria in PCOS diagnosis 1. Additional blood tests may include:
- Fasting glucose
- Insulin levels
- Lipid profile
- Thyroid function tests to assess metabolic complications and rule out other conditions. An oral glucose tolerance test may be recommended to evaluate for insulin resistance and diabetes risk. These tests collectively help healthcare providers apply diagnostic criteria, such as the Rotterdam criteria, which require at least two of three features: irregular or absent menstrual periods, clinical or biochemical signs of hyperandrogenism, and polycystic ovaries on ultrasound, as informed by the 2023 International PCOS Guidelines 1. Early diagnosis is crucial as PCOS increases the risk for infertility, diabetes, cardiovascular disease, and endometrial cancer. The use of liquid chromatography-tandem mass spectrometry (LC-MS/MS) is considered the reference standard for assessing steroids, including androgens, but its use is limited by technical complexity and accessibility 1. Therefore, a combination of clinical assessment, blood tests, and transvaginal ultrasound is the most appropriate approach for evaluating PCOS, as supported by the latest evidence 1.
From the Research
Evaluation of Polycystic Ovary Syndrome (PCOS)
To evaluate for PCOS, several tests are used, including:
- Oral glucose tolerance test every 1 to 2 years based on family history of type 2 diabetes as well as body mass index (BMI) and yearly in women with impaired glucose tolerance (IGT) 2
- Screening for elements in the metabolic syndrome including weight, waist, blood pressure, HbA1c, and lipid status 3
- Transvaginal ultrasound exam and endometrial biopsy to investigate persistent bleeding for pregnancy and/or uterine pathology 2
- Assessment of a woman with PCOS for infertility involves evaluating for preconceptional issues that may affect response to therapy or lead to adverse pregnancy outcomes and evaluating the couple for other common infertility issues that may affect the choice of therapy, such as a semen analysis 2
- Evaluation of clinical, metabolic, hormonal parameters, such as fasting insulin, HOMA-IR, lipid profile, and testosterone levels 4, 5
- Measurement of inflammatory markers, such as adiponectin levels and increased levels of adipokines, chemokines, and interleukins 3
- Evaluation of LH:FSH ratio and oxidative stress in women with functional ovarian hyperandrogenism 6
Laboratory Tests
Laboratory tests used to evaluate PCOS include:
- Fasting blood glucose and insulin levels to assess insulin resistance 2, 3, 5, 6
- Lipid profile to assess dyslipidemia 2, 3, 5
- Testosterone levels to assess hyperandrogenism 2, 3, 4, 5, 6
- LH and FSH levels to assess LH:FSH ratio 4, 5, 6
- HbA1c to assess glucose control 3
- Prolactin levels to assess cardiovascular risk 3
Imaging Studies
Imaging studies used to evaluate PCOS include: