Gynecomastia Workup
The initial workup for gynecomastia should include a thorough medical history, physical examination of the breast and genitalia (including testicular ultrasound), and laboratory tests including testosterone, estradiol, SHBG, LH, FSH, TSH, prolactin, hCG, AFP, and liver and renal function tests. 1
Initial Assessment
Medical History
- Onset and duration of breast enlargement
- Presence of pain or tenderness
- Medication use (especially antipsychotics, phenytoin, 5-α reductase inhibitors, spironolactone) 2
- Substance use/abuse (alcohol, marijuana, anabolic steroids)
- Sexual development and function
- Family history of breast disorders
- Symptoms of underlying conditions (liver disease, kidney disease, thyroid disorders)
Physical Examination
- Breast examination to:
- Confirm presence of glandular tissue (vs. pseudogynecomastia/lipomastia) 2
- Assess size, consistency, and tenderness
- Rule out suspicious findings for malignancy (hard, fixed mass, skin changes, nipple discharge)
- Genital examination to:
- Detect testicular atrophy or masses
- Assess secondary sexual characteristics
- General examination for signs of:
- Liver disease
- Thyroid dysfunction
- Signs of hormonal imbalance
Diagnostic Testing
Laboratory Tests
- Hormonal evaluation:
- Testosterone (total and free)
- Estradiol
- 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)
- Other tests:
- Liver function tests
- Renal function tests
Imaging
- Testicular ultrasound (recommended as part of initial evaluation) 1
- Breast imaging (only if clinical examination is equivocal or suspicious for malignancy) 1
- Ultrasound is preferred initial imaging modality
- Mammography may be considered in older men or when cancer is suspected
Tissue Sampling
- Core needle biopsy should be performed directly if suspicious for malignancy 1
- Not routinely needed for typical gynecomastia
Clinical Pearls and Pitfalls
- Gynecomastia is defined as actual glandular breast tissue enlargement, while pseudogynecomastia is fatty tissue deposition without glandular proliferation 2
- Most cases of gynecomastia can be diagnosed based on clinical findings without imaging 2
- Proper investigation may reveal an underlying pathology in 45-50% of adult cases 1
- Male breast cancer is rare (<1% of all breast cancers) but should be considered, especially in older men 2
- Physiologic gynecomastia (newborns, adolescents, elderly) often resolves spontaneously and may only require reassurance 1
- The presence of an apparent reason for gynecomastia (e.g., medication use) should not preclude a detailed investigation 1
Management Considerations
- Watchful waiting after treating underlying pathology or discontinuing contributing substances 1
- Medication adjustment for drug-induced gynecomastia (e.g., switching to prolactin-sparing antipsychotics) 2
- Testosterone treatment only for men with proven testosterone deficiency 1
- Surgical options for long-standing gynecomastia (>12-24 months) that doesn't respond to medical therapy 2
By following this structured approach to the evaluation of gynecomastia, clinicians can effectively identify underlying causes and develop appropriate management strategies.