What is the initial workup for a young male presenting with gynecomastia?

Initial Workup for Young Male with Gynecomastia

The initial workup for a young male with gynecomastia should focus on clinical evaluation without routine imaging, as most cases can be diagnosed based on physical examination findings alone. 1

Clinical Evaluation

Physical Examination

• Assess the breast tissue to differentiate true gynecomastia (glandular tissue proliferation) from pseudogynecomastia (fatty tissue deposition), especially in patients with elevated BMI 1, 2
• Look for characteristic presentation: soft, rubbery, or firm mobile mass directly under the nipple, often painful especially when present for less than 6 months 3, 1
• Note that gynecomastia is bilateral in approximately 50% of patients 1
• Evaluate general body habitus and calculate BMI or measure waist circumference to assess for signs of underlying systemic conditions 1
• Assess virilization status by examining body hair patterns in androgen-dependent areas to evaluate for hypogonadism 1
• Perform complete testicular examination to assess size, consistency, presence of masses, and evaluate for varicocele 1
• Assess prostate size and morphology for abnormalities 1
• Examine for visual field changes (bitemporal hemianopsia) that might suggest pituitary disorders 1

Medical History

• Obtain detailed medication history, noting temporal relationship between medication initiation and onset of gynecomastia 4
• Common medications causing gynecomastia include:
  • Ketoconazole 2
  • Estrogens and medications with estrogenic activity 2
  • Testosterone or androgenic anabolic steroids 2
  • 5-alpha reductase inhibitors (finasteride, dutasteride) 2
  • Spironolactone (consider switching to eplerenone if medication is necessary) 2
  • Digoxin 2
• Assess for underlying medical conditions such as liver cirrhosis, hypogonadism, thyroid disease, or renal dysfunction 4
• Consider genetic factors such as family history of breast disorders and Klinefelter syndrome (which increases gynecomastia risk with a relative risk of 24.7) 4

Laboratory Testing

• Patients with elevated baseline estradiol measurements should be referred to an endocrinologist to determine the underlying hormonal cause 1
• The endocrinologist will likely order:
  • Serum testosterone levels 1
  • Serum estradiol levels 1
  • Luteinizing hormone (LH) levels 1
  • Prolactin levels (if testosterone is low with low/normal LH) 1

Imaging

• For men with clinical findings consistent with gynecomastia or pseudogynecomastia, imaging is not routinely indicated 3, 1
• If the differentiation between benign disease and breast cancer cannot be made clinically, or if presentation is suspicious, proceed with imaging 1
• For indeterminate breast masses:
  • Men younger than 25: Ultrasound is the initial recommended imaging study 1
  • Men 25 and older: Mammography or digital breast tomosynthesis is recommended 1
• If there are suspicious features on ultrasound, mammography or digital breast tomosynthesis should be performed before a biopsy recommendation is made 3

Important Considerations and Pitfalls

Age-Related Risk Assessment

• Breast cancer in males is rare (accounting for <1% of all breast cancers) but should be ruled out, especially in older men (median age 63 years) 1
• Only 6% of male breast cancers occur in men <40 years of age and 1% in men <30 years of age 3

Common Pitfalls to Avoid

• Unnecessary imaging in clear cases of gynecomastia can lead to additional unnecessary benign biopsies 1
• Failing to distinguish between true gynecomastia and pseudogynecomastia, especially in obese patients 4
• Overlooking medication-induced causes, which are often reversible 2
• Delaying treatment in cases of persistent gynecomastia, as gynecomastia persisting beyond 12 months often becomes fibrotic and less responsive to medical therapy 4

Clinical Significance

• In 43% of men with adult onset of gynecomastia (≥18 years), an underlying and often treatable cause can be detected 5
• In men with younger onset, an underlying cause can be detected in only 7.7% of cases 5