What is the appropriate workup for gynecomastia (enlargement of breast tissue in males)?

Appropriate Workup for Gynecomastia

The appropriate workup for gynecomastia should begin with a detailed clinical assessment, with imaging and laboratory tests reserved for cases where underlying pathology is suspected or clinical presentation is concerning for malignancy. 1, 2

Initial Clinical Assessment

• Determine if the breast enlargement is true gynecomastia (glandular tissue proliferation) or pseudogynecomastia (fatty tissue deposition) through physical examination 1
• Evaluate onset, duration, and progression of breast enlargement 2
• Document any associated symptoms such as pain, tenderness, or nipple discharge 3
• Assess for medication use or substance abuse that could cause gynecomastia, including spironolactone which can cause dose-dependent gynecomastia 4, 2
• Perform a thorough physical examination of the breast to identify:
  • Soft, rubbery, or firm mobile mass directly under the nipple (typical for gynecomastia) 1
  • Any suspicious features suggesting malignancy (hard, fixed mass, skin changes, nipple retraction) 3
• Examine the genitalia to rule out testicular masses and assess for signs of hypogonadism 2

Laboratory Evaluation

• For persistent gynecomastia or when underlying pathology is suspected, consider the following tests 2:
  • Testosterone, estradiol, and sex hormone-binding globulin (SHBG) 2
  • Luteinizing hormone (LH) and follicular stimulating hormone (FSH) 2
  • Thyroid stimulating hormone (TSH) 2
  • Prolactin 2
  • Human chorionic gonadotropin (hCG) and alpha-fetoprotein (AFP) to rule out testicular tumors 2
  • Liver and renal function tests 2

Imaging Studies

• Imaging is not routinely indicated for clear cases of gynecomastia with typical clinical presentation 1, 5
• When imaging is needed due to equivocal clinical findings:
  • For men younger than 25: Ultrasound is the initial recommended imaging study 1
  • For men 25 and older: Mammography or digital breast tomosynthesis is recommended 1
• Testicular ultrasound should be performed to rule out testicular tumors, as clinical examination has low sensitivity 2

Special Considerations

• Proper investigation may reveal an underlying pathology in 45-50% of adult cases of gynecomastia 2
• Breast cancer in males is rare (accounting for <1% of all breast cancers) but should be considered, especially in older men (median age 63 years) 3, 1
• If clinical examination suggests malignancy, proceed directly to core needle biopsy rather than additional imaging 2

Common Pitfalls to Avoid

• Unnecessary imaging in clear cases of gynecomastia can lead to additional unnecessary benign biopsies 1
• Failure to investigate gynecomastia in adults, as approximately half may have an underlying pathological cause 2
• Missing medication-induced gynecomastia, which is potentially reversible with discontinuation of the offending agent 4, 2
• Overlooking testicular tumors, which may present with gynecomastia as the first sign 2

By following this systematic approach to gynecomastia evaluation, clinicians can effectively rule out serious underlying conditions while avoiding unnecessary testing in cases of physiologic or medication-induced gynecomastia.