What is the appropriate laboratory workup for a 21-year-old female with obesity, oligomenorrhea (irregular menses), and acne?

From the Guidelines

For a 21-year-old female with obesity, irregular menses, and acne, the most appropriate laboratory workup should include total testosterone (TT) and free testosterone (FT) as the first-line tests to assess biochemical hyperandrogenism in the diagnosis of polycystic ovary syndrome (PCOS). According to the most recent and highest quality study 1, TT and FT using mass spectrometry are the recommended first-line laboratory tests. If mass spectrometry is unavailable, the free androgen index (FAI) can be employed.

The clinical presentation of this patient strongly suggests PCOS, which is characterized by hyperandrogenism (causing acne), ovulatory dysfunction (causing irregular menses), and often associated with obesity and insulin resistance. Therefore, it is essential to evaluate for PCOS and exclude other endocrine disorders.

Key laboratory tests to consider include:

• Total testosterone (TT) and free testosterone (FT) to assess biochemical hyperandrogenism
• Thyroid-stimulating hormone (TSH) to rule out thyroid disease
• Prolactin to exclude hyperprolactinemia
• A 2-hour oral glucose tolerance test with insulin levels and hemoglobin A1c to assess for insulin resistance and diabetes risk
• A lipid panel to evaluate for dyslipidemia
• Dehydroepiandrosterone sulfate (DHEAS) and androstenedione (A4) may be considered if TT or FT is not elevated, but their poorer specificity should be noted 1.

A pelvic ultrasound to evaluate for polycystic ovaries would complement the laboratory evaluation. Early diagnosis of PCOS allows for appropriate management, including lifestyle modifications, hormonal contraceptives for menstrual regulation and acne treatment, and metformin if insulin resistance is present. Identifying PCOS is also crucial for long-term health monitoring, as these patients have an increased risk for metabolic syndrome, type 2 diabetes, and cardiovascular disease.

From the Research

Laboratory Workup for PCOS

The appropriate laboratory workup for a 21-year-old female with obesity, oligomenorrhea (irregular menses), and acne, who may be suspected of having Polycystic Ovarian Syndrome (PCOS), includes:

• Hormonal assessments:
  • Luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels to evaluate the LH/FSH ratio 2, 3, 4
  • Total testosterone and dehydroepiandrosterone sulfate (DHEAS) levels to assess hyperandrogenism 5, 3, 4
  • Prolactin levels to rule out hyperprolactinemia 5, 2, 4
  • Thyroid-stimulating hormone (TSH) levels to rule out thyroid dysfunction 4
• Metabolic assessments:
  • Fasting blood glucose (FBG) and insulin levels to evaluate insulin resistance 5, 3, 4
  • Lipid profile, including total cholesterol, high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), triglycerides, and very-low-density lipoprotein cholesterol (VLDL-C) 4, 6
• Other assessments:
  • Vitamin D levels, as deficiency may be implicated in the pathogenesis of PCOS 4
  • Anti-Mullerian hormone (AMH) levels, which may be elevated in PCOS 4
  • Cortisol and progesterone levels to further evaluate hormonal imbalances 4

Rationale for Laboratory Tests

These laboratory tests are justified based on the clinical presentation of PCOS, which is characterized by hyperandrogenism, insulin resistance, and metabolic dysfunction. The tests help to:

• Confirm the diagnosis of PCOS
• Evaluate the severity of hyperandrogenism and insulin resistance
• Assess the risk of metabolic complications, such as dyslipidemia and type 2 diabetes mellitus
• Guide treatment decisions, including the use of metformin to improve insulin sensitivity and reduce hyperandrogenism 5, 3