What are the initial steps in a Polycystic Ovary Syndrome (PCOS) workup?

Initial Workup for Polycystic Ovary Syndrome (PCOS)

The initial PCOS workup should include a detailed history focusing on onset and duration of androgen excess signs, menstrual history, medication use, lifestyle factors, and family history of cardiovascular disease and diabetes, followed by a physical examination to assess for hyperandrogenism, obesity, and acanthosis nigricans, and laboratory tests including thyroid function, prolactin, testosterone levels, glucose tolerance testing, and lipid profile. 1

Step 1: Clinical History Assessment

• Menstrual history: Document pattern of irregularity, oligomenorrhea, or amenorrhea
• Hyperandrogenism signs: Duration and onset of hirsutism, acne, or alopecia
• Medication use: Including exogenous androgens or hormonal treatments
• Lifestyle factors: Diet, exercise habits, alcohol use, smoking
• Family history: Cardiovascular disease, diabetes, PCOS in first-degree relatives

Step 2: Physical Examination

• Hyperandrogenism assessment:
  • Hirsutism (excessive hair growth in male-pattern distribution)
  • Acne
  • Male-pattern balding
  • Clitoromegaly (rare but significant if present)
• Metabolic assessment:
  • BMI calculation and waist circumference
  • Blood pressure measurement
  • Acanthosis nigricans (velvety, hyperpigmented skin patches on neck, axillae, under breasts, or vulva) 1
• Pelvic examination: To assess for enlarged ovaries if appropriate

Step 3: Laboratory Testing

• Endocrine assessment:

  • Thyroid-stimulating hormone (TSH) to rule out thyroid disease
  • Prolactin level to exclude hyperprolactinemia
  • Total testosterone or bioavailable/free testosterone levels to assess ovarian hyperandrogenism 1
  • Consider 17-hydroxyprogesterone to rule out non-classic congenital adrenal hyperplasia 2
  • DHEA sulfate to assess adrenal androgen production 2

• Metabolic assessment:

  • Two-hour oral glucose tolerance test with 75g glucose load (all women with PCOS should be screened) 1
  • Fasting lipid and lipoprotein levels to assess for dyslipidemia 1

Step 4: Imaging Studies

• Transvaginal ultrasound is preferred if sexually active and acceptable to the patient 1

  • Using 8MHz or higher frequency transducer
  • Look for ≥20 follicles (2-9mm) per ovary and/or ovarian volume ≥10ml 1
  • Should not be used for diagnosis in patients <8 years after menarche due to high incidence of multi-follicular ovaries 1

• Transabdominal ultrasound if transvaginal approach not feasible

  • Focus on ovarian volume with threshold of ≥10ml 1
  • Less reliable for follicle count assessment

Important Diagnostic Considerations

Differential Diagnosis to Rule Out

• Cushing's syndrome (buffalo hump, moon facies, abdominal striae)
• Androgen-secreting tumors of ovary or adrenal gland
• Non-classic congenital adrenal hyperplasia
• Thyroid disorders
• Hyperprolactinemia
• Primary ovarian failure
• Acromegaly 1

Diagnostic Criteria (Rotterdam)

PCOS diagnosis requires two of three criteria:

1. Oligo/anovulation
2. Clinical and/or biochemical hyperandrogenism
3. Polycystic ovaries on ultrasound 3

Common Pitfalls to Avoid

• Incomplete evaluation: Failing to exclude other causes of hyperandrogenism
• Overreliance on ultrasound: Ultrasound findings alone are insufficient for diagnosis; clinical criteria must be present
• Premature ultrasound: Using ultrasound for diagnosis in adolescents <8 years post-menarche 1
• Neglecting metabolic assessment: All women with PCOS should be screened for diabetes and cardiovascular risk factors 1
• AMH misuse: Serum AMH should not yet be used as an alternative for detecting polycystic ovarian morphology or as a single test for PCOS diagnosis 1

By following this systematic approach, clinicians can effectively diagnose PCOS while ruling out other conditions that may present with similar symptoms, allowing for appropriate management and prevention of long-term health consequences.