Diagnosis and Management of Polycystic Ovary Syndrome (PCOS)

Diagnosis

• The first-line laboratory tests for diagnosing PCOS should include total testosterone (TT) and free testosterone (FT) using mass spectrometry methods, with TT having a sensitivity of 74% and specificity of 86%, and FT having a sensitivity of 89% and specificity of 83% 1
• Alternative tests include Free Androgen Index (FAI) with a sensitivity of 78% and specificity of 85%, Androstenedione (A4) with a sensitivity of 75% and specificity of 71%, and Dehydroepiandrosterone sulfate (DHEAS) with a sensitivity of 75% and specificity of 67%, as recommended by the European Society of Human Reproduction and Embryology 1

• The following table summarizes the sensitivities and specificities of these tests:

  Test	Sensitivity	Specificity
  Free Androgen Index (FAI)	78%	85%
  Androstenedione (A4)	75%	71%
  Dehydroepiandrosterone sulfate (DHEAS)	75%	67%

• Calculated bioavailable testosterone has a sensitivity of 76% and specificity of 83% for diagnosing PCOS, with a cutoff of 0.78 nmol/L providing 75.9% sensitivity and 83.3% specificity 1
• PCOS diagnosis requires correlation of clinical, biochemical, and ultrasonographic findings, including chronic anovulation, hyperandrogenism, and polycystic ovarian morphology, with exclusion of other disorders, as recommended by the European Society of Human Reproduction and Embryology and the American College of Obstetricians and Gynecologists 1, 2, 3
• The Rotterdam criteria for PCOS diagnosis include chronic anovulation, hyperandrogenism, and polycystic ovaries on ultrasound, with a strength of evidence level of high, according to the American College of Obstetricians and Gynecologists 3
• Transvaginal ultrasound is preferred for adult women, while transabdominal or transrectal ultrasound is recommended for adolescents, with a moderate level of evidence, as suggested by the Society of Radiologists in Ultrasound 3
• Key ultrasonographic measurements include follicle number per whole ovary (FNPO), ovarian volume (OV), and follicle number per single cross-section (FNPS), with a high level of evidence, according to the International Ovarian Tumor Analysis group 3

Differential Diagnosis

• Functional hypothalamic amenorrhea can present with a polycystic ovarian morphology, but has distinct hormonal and metabolic profiles, requiring careful diagnostic consideration 4
• In cases of functional hypothalamic amenorrhea, the LH/FSH ratio is less than 1 in 82% of cases, which can help differentiate it from other conditions such as PCOS 4

Management

• Oral contraceptives are the first-line treatment for PCOS, aiming to regulate menstrual cycles, prevent endometrial hyperplasia, lower androgens, and increase sex hormone-binding globulin, as recommended by the American College of Obstetricians and Gynecologists 2, 5
• Insulin-sensitizing agents, such as metformin, may be used to improve insulin sensitivity and reduce androgen levels, as suggested by the American Diabetes Association 5
• Lifestyle modifications, including a low glycemic index diet, regular physical activity, and weight loss if overweight/obese, are recommended as first-line interventions, as suggested by the American Academy of Family Physicians 5
• The American Heart Association recommends regular assessment of metabolic parameters, monitoring for endometrial hyperplasia, evaluation of treatment efficacy, and screening for cardiovascular risk factors, as part of ongoing management of PCOS 2
• Patients with PCOS should undergo regular screening for other endocrine disorders and cardiovascular risk factors, as recommended by the Endocrine Society and the American College of Obstetricians and Gynecologists 1, 2