From the Guidelines
Diagnosing PCOS requires a comprehensive approach, prioritizing the most recent and accurate ultrasonographic criteria, including follicle number per ovary (FNPO) as the most accurate marker, with ovarian volume (OV) and follicle number per ovary (FNPS) as alternatives, as confirmed by the most recent systematic review and diagnostic meta-analysis 1. The diagnostic process for PCOS should begin with a detailed medical history, focusing on menstrual irregularities, fertility issues, weight changes, and symptoms of androgen excess like hirsutism or acne.
- Key aspects of the medical history include:
- Menstrual irregularities, such as oligomenorrhea or amenorrhea
- Fertility issues, such as difficulty conceiving
- Weight changes, such as weight gain or obesity
- Symptoms of androgen excess, such as hirsutism, acne, or male pattern baldness Physical examination should assess BMI, blood pressure, skin manifestations, and signs of insulin resistance.
- Important physical examination findings include:
- BMI and waist circumference to assess for obesity and insulin resistance
- Blood pressure to assess for hypertension
- Skin manifestations, such as acne, hirsutism, or acanthosis nigricans
- Signs of insulin resistance, such as darkening of the skin folds Laboratory testing should include total and free testosterone, DHEAS, androstenedione, 17-hydroxyprogesterone, TSH, prolactin, FSH, LH, and fasting glucose and insulin levels.
- Key laboratory tests include:
- Total and free testosterone to assess for hyperandrogenism
- DHEAS, androstenedione, and 17-hydroxyprogesterone to assess for adrenal hyperandrogenism
- TSH and prolactin to rule out thyroid disorders and hyperprolactinemia
- FSH and LH to assess for ovulatory dysfunction
- Fasting glucose and insulin levels to assess for insulin resistance and glucose intolerance A transvaginal ultrasound is recommended to evaluate ovarian morphology, looking for the presence of 12 or more follicles measuring 2-9mm in diameter or increased ovarian volume (>10mL), with the threshold for PCOM revised regularly with advancing ultrasound technology, and age-specific cut off values for PCOM defined 1.
- Ultrasonographic criteria for PCOS diagnosis include:
- Follicle number per ovary (FNPO) as the most accurate marker
- Ovarian volume (OV) and follicle number per ovary (FNPS) as alternatives
- Threshold for PCOM revised regularly with advancing ultrasound technology
- Age-specific cut off values for PCOM defined It's essential to exclude other conditions that can mimic PCOS, such as thyroid disorders, hyperprolactinemia, congenital adrenal hyperplasia, and Cushing's syndrome, and to consider the limitations of using anti-müllerian hormone (AMH) in PCOS diagnosis, particularly in adolescents, due to the significant variability in follicle numbers and development across the lifespan 1.
- Conditions to exclude in the differential diagnosis of PCOS include:
- Thyroid disorders, such as hypothyroidism or hyperthyroidism
- Hyperprolactinemia, due to prolactinoma or other causes
- Congenital adrenal hyperplasia, due to 21-hydroxylase deficiency or other causes
- Cushing's syndrome, due to excess cortisol production Early diagnosis is crucial as PCOS increases risks for type 2 diabetes, cardiovascular disease, endometrial cancer, and mental health issues, allowing for timely intervention and management of both reproductive and metabolic aspects of the syndrome.
- Risks associated with PCOS include:
- Type 2 diabetes and glucose intolerance
- Cardiovascular disease, including hypertension and dyslipidemia
- Endometrial cancer, due to unopposed estrogen exposure
- Mental health issues, including depression and anxiety By prioritizing the most recent and accurate ultrasonographic criteria and considering the limitations of AMH in PCOS diagnosis, clinicians can provide timely and effective diagnosis and management of PCOS, improving patient outcomes and reducing morbidity and mortality 1.
From the Research
Diagnostic Criteria for PCOS
- Polycystic ovary syndrome (PCOS) is characterized by hyperandrogenism (hirsutism, acne, male-pattern hair loss), oligo-anovulation, and polycystic ovaries on ultrasound 2
- The diagnosis of PCOS involves a comprehensive approach to evaluation and treatment, including menstrual cycle control, ovulation induction therapies, and management of cosmetic and metabolic complications 2, 3
Clinical Presentation and Evaluation
- Women with PCOS often present with irregular menstrual cycles, acne, and hirsutism 3
- A careful history, physical examination, and laboratory tests are necessary to diagnose PCOS 3
- Hirsutism is defined as the presence of terminal hair with male pattern distribution in women, and is a main manifestation of hyperandrogenism in women with PCOS 4
Challenges in Diagnosing PCOS
- Some women with PCOS may not present with biochemical hyperandrogenism, making diagnosis challenging 4
- Androgen levels may correlate poorly with the severity of hirsutism, and ethnic variations, skin type, and other factors should be considered when evaluating hirsutism in distinct populations 4
- The modified Ferriman-Gallwey (mFG) scoring system can be used to visually score excessive terminal hair and standardize hirsutism evaluation 4