What is the initial workup for a patient presenting with gynecomastia?

Initial Workup for Gynecomastia

The initial workup for gynecomastia should include a thorough medical history, physical examination of breast and genitalia (including testicular ultrasound), and laboratory investigations including testosterone, estradiol, SHBG, LH, FSH, TSH, prolactin, hCG, AFP, and liver and renal function tests. 1

Diagnostic Approach

Step 1: Confirm True Gynecomastia

• Perform breast examination to confirm the presence of palpable glandular tissue (true gynecomastia) versus adipose tissue (pseudogynecomastia) 1
• True gynecomastia presents as firm, rubbery, disc-like tissue centered beneath the nipple-areolar complex 2
• Pseudogynecomastia is fatty tissue deposition without glandular proliferation 2

Step 2: Detailed Medical History

• Document onset and duration of breast enlargement 1
• Inquire about:
  • Medication use (antipsychotics, 5-α reductase inhibitors, spironolactone, phenytoin) 2
  • Substance use/abuse (alcohol, marijuana, anabolic steroids) 1
  • Sexual development and function 1
  • Symptoms of underlying conditions (liver disease, kidney disease, thyroid disorders) 1

Step 3: Physical Examination

• Breast examination: Assess size, consistency, tenderness, and presence of suspicious masses 1
• Genital examination: Check for testicular atrophy, masses, or other abnormalities 1
• Look for signs of under-virilization or systemic disease 1
• Important: Testicular examination has low sensitivity for detecting tumors; therefore, testicular ultrasound is recommended 1

Step 4: Laboratory Investigations

The following tests should be considered:

• Hormonal panel:
  • Testosterone (T)
  • Estradiol (E2)
  • Sex hormone-binding globulin (SHBG)
  • Luteinizing hormone (LH)
  • Follicle-stimulating hormone (FSH)
  • Thyroid stimulating hormone (TSH)
  • Prolactin
• Tumor markers:
  • Human chorionic gonadotropin (hCG)
  • Alpha-fetoprotein (AFP)
• Metabolic assessment:
  • Liver function tests
  • Renal function tests 1

Step 5: Imaging

• Breast imaging is not routinely required but may be helpful when clinical examination is equivocal 1, 3
• Testicular ultrasound is recommended to rule out testicular tumors 1
• If malignancy is suspected based on clinical findings (hard, fixed mass, skin changes, nipple discharge, axillary lymphadenopathy), proceed directly to core needle biopsy rather than imaging 1

Clinical Pearls and Pitfalls

Important Considerations

• Proper investigation may reveal underlying pathology in 45-50% of adult gynecomastia cases 1
• Even when an apparent cause is identified (e.g., medication use), a thorough investigation is still recommended in adults 1
• Male breast cancer is rare (<1% of all breast cancers) but should be considered, especially in older men (median age 63) 2
• Gynecomastia is not considered a premalignant condition 1, 3

Age-Specific Considerations

• Neonatal gynecomastia typically resolves spontaneously within the first year of life 1
• Pubertal gynecomastia affects approximately 50% of mid-pubertal boys and resolves spontaneously in >90% of cases within 24 months 1
• Adult gynecomastia prevalence increases with age and warrants more thorough investigation 1

Common Pitfalls to Avoid

1. Failing to distinguish true gynecomastia from pseudogynecomastia
2. Overlooking medication-induced gynecomastia
3. Missing testicular tumors by relying solely on physical examination without ultrasound
4. Unnecessary imaging in cases where clinical assessment is sufficient
5. Delaying treatment in cases causing significant psychological distress

By following this systematic approach, clinicians can effectively evaluate patients with gynecomastia and determine appropriate management strategies based on the underlying cause.