From the Guidelines
The best approach to diagnose Polycystic Ovary Syndrome (PCOS) in a 30-year-old female involves a comprehensive evaluation combining clinical assessment, laboratory testing, and imaging, with a focus on the International Evidence-based Guideline Criteria, which requires at least two of three features: ovulatory dysfunction, clinical or biochemical hyperandrogenism, and/or polycystic ovary morphology (PCOM) on ultrasound or elevated anti-Müllerian hormone levels 1. To diagnose PCOS, the following steps should be taken:
- Begin with a detailed history focusing on menstrual irregularities, hirsutism, acne, and fertility concerns, followed by a physical examination to document signs of hyperandrogenism and calculate BMI.
- Laboratory testing should include total and free testosterone, DHEAS, 17-hydroxyprogesterone, TSH, prolactin, and fasting glucose with insulin levels, as biochemical hyperandrogenism is a key diagnostic criterion for PCOS 1.
- A 2-hour oral glucose tolerance test is recommended to assess insulin resistance, which is a common feature of PCOS.
- Transvaginal ultrasound should be performed to evaluate ovarian morphology, looking for the characteristic polycystic appearance, which is defined as 12 or more follicles measuring 2-9mm in diameter per ovary and/or increased ovarian volume >10mL 1.
- Diagnosis is based on the Rotterdam criteria, which requires at least two of three features: oligo/anovulation, clinical/biochemical hyperandrogenism, and polycystic ovaries on ultrasound.
- Additional testing should exclude other conditions that can mimic PCOS, such as thyroid dysfunction, hyperprolactinemia, congenital adrenal hyperplasia, and Cushing's syndrome. This systematic approach ensures accurate diagnosis of PCOS, which is essential for appropriate management of symptoms, fertility concerns, and long-term metabolic health risks. Key points to consider in the diagnosis of PCOS include:
- The use of liquid chromatography-tandem mass spectrometry (LC-MS/MS) as the reference standard for assessing steroids, including androgens, due to its high accuracy and reliability 1.
- The importance of excluding other conditions that can mimic PCOS, such as thyroid dysfunction and hyperprolactinemia, to ensure accurate diagnosis and treatment.
- The need for a comprehensive evaluation, including clinical assessment, laboratory testing, and imaging, to diagnose PCOS accurately and develop an effective treatment plan.
From the Research
Diagnosis of Polycystic Ovary Syndrome (PCOS)
To diagnose PCOS in a 30-year-old female, the following approaches can be considered:
- A thorough history and physical examination to assess for the presence of hirsutism, acne, and other symptoms of hyperandrogenism 2
- Ovarian ultrasonography to evaluate for polycystic ovarian morphology 2, 3
- Hormonal testing to confirm hyperandrogenism and oligo-anovulation, and to exclude similar or mimicking disorders 2, 3
- Assessment of insulin resistance, which is common in women with PCOS, using methods such as the oral glucose tolerance test (OGTT) or homeostatic model assessment (HOMA) 4
Diagnostic Criteria
The diagnosis of PCOS is primarily clinical, based on the presence of at least two of the three Rotterdam criteria:
- Oligoanovulation
- Hyperandrogenism
- Polycystic ovaries on ultrasonography 3 There are four recognized phenotypes of PCOS, each with different long-term health and metabolic implications, and clinicians should clearly denote a patient's phenotype when making the diagnosis 2
Evaluation and Screening
Evaluation of patients suspected of having PCOS should include: