From the Guidelines
Diagnostic screening for Polycystic Ovary Syndrome (PCOS) should prioritize the use of total testosterone (TT), free testosterone (FT), and free androgen index (FAI) as first-line laboratory tests to assess biochemical hyperandrogenism, as recommended by the 2023 International PCOS Guidelines 1. The initial evaluation should include a comprehensive medical history focusing on menstrual irregularities, signs of hyperandrogenism, and fertility concerns. Key points to consider in the diagnostic workup include:
- Laboratory testing to assess androgen excess, with TT, FT, and FAI being the primary markers 1
- Additional hormonal tests, such as luteinizing hormone (LH) and follicle-stimulating hormone (FSH), to evaluate the LH:FSH ratio, which is often elevated in PCOS patients
- Thyroid function tests (TSH, free T4) and prolactin levels to rule out other endocrine disorders
- A fasting glucose test, hemoglobin A1C, and lipid panel to evaluate metabolic status, given the increased risk of insulin resistance and cardiovascular disease in PCOS patients
- Transvaginal ultrasound to visualize ovarian morphology, looking for the characteristic polycystic appearance (multiple small follicles), although the diagnosis of PCOS requires additional clinical criteria 1 The Rotterdam criteria, which requires two of three findings (oligo/anovulation, clinical/biochemical hyperandrogenism, and polycystic ovaries on ultrasound), is commonly used for diagnosis after excluding other conditions that can mimic PCOS symptoms, such as congenital adrenal hyperplasia, Cushing's syndrome, and androgen-secreting tumors. It is also important to note that while Anti-Müllerian Hormone (AMH) has been proposed as an alternative to ultrasound in PCOS diagnosis, further research is needed to determine its utility and establish cut-offs 1.
From the Research
Diagnostic Screening for PCOS
The diagnostic screening for Polycystic Ovary Syndrome (PCOS) involves a combination of clinical, laboratory, and imaging evaluations. The key features of PCOS include:
- Hyperandrogenism (hirsutism, acne, male-pattern hair loss)
- Oligo-anovulation
- Polycystic ovaries on ultrasound
Evaluation and Diagnosis
The evaluation of PCOS should exclude alternate androgen-excess disorders and risk factors for endometrial cancer, mood disorders, obstructive sleep apnea, diabetes, and cardiovascular disease 2. The Rotterdam criteria are suggested for diagnosing PCOS, which include the presence of two of the following criteria: androgen excess, ovulatory dysfunction, or polycystic ovaries 2.
Laboratory Tests
Laboratory tests may include:
- Hormone level tests (e.g., testosterone, LH, FSH)
- Glucose tolerance test to assess insulin resistance
- Lipid profile to assess cardiovascular risk
Imaging Studies
Imaging studies, such as ultrasound, may be used to evaluate ovarian morphology and detect polycystic ovaries 3.
Special Considerations
In adolescents and menopausal women, the diagnosis of PCOS can be problematic, and special considerations should be taken into account 2. Hyperandrogenism is central to the presentation in adolescents, whereas there is no consistent phenotype in postmenopausal women.
Screening for Related Conditions
Women with PCOS should also be screened for related conditions, such as: