What is the diagnosis and treatment approach for a male patient with gynecomastia?

Gynecomastia: Diagnosis and Management

Initial Clinical Diagnosis

Most men with gynecomastia can be diagnosed clinically without imaging, and the first priority is distinguishing true gynecomastia from pseudogynecomastia and ruling out breast cancer. 1

Key Clinical Features to Identify

• True gynecomastia presents as a soft, rubbery, or firm mobile mass directly under the nipple, often painful especially when present for less than 6 months 1
• Pseudogynecomastia involves fatty tissue deposition rather than glandular enlargement, particularly common in patients with elevated BMI 1
• Gynecomastia is bilateral in approximately 50% of patients 1
• Red flags for malignancy include unilateral mass that is hard, fixed, or eccentric to the nipple, bloody nipple discharge, or retracted skin/nipple 1

Diagnostic Algorithm

Step 1: Determine Need for Imaging

For clinical findings consistent with gynecomastia or pseudogynecomastia, no imaging is routinely recommended 1, 2

Imaging is indicated only when:

• Differentiation between benign disease and breast cancer cannot be made clinically 1
• Presentation is suspicious (features listed above) 1

If imaging is needed:

• Men younger than 25 years: Ultrasound is the initial imaging study 1
• Men 25 years and older: Mammography or digital breast tomosynthesis is recommended (sensitivity 92-100%, specificity 90-96%) 1

Step 2: Laboratory Evaluation

Measure the following hormonal parameters:

• Serum testosterone levels 1
• Serum estradiol levels (mandatory in all testosterone-deficient patients before starting testosterone therapy) 1
• Luteinizing hormone (LH) levels 1
• Prolactin levels if testosterone is low with low/normal LH 1

Step 3: Physical Examination Components

Perform a comprehensive assessment including:

• Body mass index (BMI) or waist circumference to assess for systemic conditions 1
• Body hair patterns in androgen-dependent areas to evaluate for hypogonadism 1
• Complete testicular examination (size, consistency, masses, varicocele) 1
• Prostate size and morphology 1
• Visual field examination for bitemporal hemianopsia suggesting pituitary disorders 1

Step 4: Identify Underlying Causes

Assess for risk factors and secondary causes:

• Medication history with temporal relationship to gynecomastia onset 3
• Hormonal disorders (hyperprolactinemia, hypogonadism, thyroid disease) 3
• Liver cirrhosis 3
• Klinefelter syndrome (relative risk 24.7 for gynecomastia) 3
• Adrenal or adrenocortical tumors that secrete estrogen 3
• BRCA2 mutation carriers (higher risk of male breast cancer) 3

Management Algorithm

For Physiologic/Idiopathic Gynecomastia

Observation and reassurance is the first-line approach for mild cases 4

• Pubertal gynecomastia is self-limited and regresses in 1-3 years in 84% of mild cases, 47% of moderate cases, and 20% of severe cases 4
• Noncyclical breast pain resolves spontaneously in up to 50% of patients 1
• More than 95% of adolescent gynecomastia cases are idiopathic 4

For Patients with Elevated Estradiol

Mandatory referral to endocrinology for all patients with elevated baseline estradiol measurements 1

The endocrinologist will assess for:

• Testosterone deficiency 1
• Abnormal LH levels 1
• Hyperprolactinemia 1

Medical Therapy Indications

Consider medical therapy for:

• Patients with emotional distress or psychological limitation on normal activities 4
• Testosterone-deficient patients with low or low/normal LH levels may receive estrogen receptor modulators 1
• Men with testosterone deficiency who develop gynecomastia on testosterone treatment should undergo monitoring as symptoms sometimes abate 1

Important caveat: Anastrozole is not effective for pubertal gynecomastia in adolescent boys—a randomized controlled trial showed no statistically significant difference compared to placebo in reducing gynecomastia 5

Surgical Treatment

Surgery should be performed if gynecomastia does not remit after two years 4

Surgical indications include:

• Chronic, bothersome gynecomastia unresponsive to medical therapy 6
• Moderate to severe ptotic glandular enlargement with skin redundancy 7
• Persistent enlargement causing significant embarrassment or distress 7

The complete circumareolar approach with purse-string suture creates the best aesthetic results with fewer complications in patients with moderate to severe ptotic enlargement and skin redundancy 7

Special Populations

Men interested in fertility:

• Must have reproductive health evaluation (testicular exam, FSH measurement) performed prior to treatment 1

Patients starting antiandrogen therapy:

• Breast irradiation (8-15 Gy in 1-3 fractions) should be given 1-2 weeks before initiation to prevent painful gynecomastia 1

Biopsy Approach for Suspicious Lesions

When biopsy is indicated:

• Core needle biopsy is superior to fine-needle aspiration in sensitivity, specificity, and histological grading 1
• Ultrasound guidance is preferred for lesions visible on ultrasound due to real-time visualization, patient comfort, and accuracy 1
• Stereotactic-guided biopsy for lesions only visible on mammography 1
• Post-biopsy marker clip placement is recommended to confirm tissue sampling 1

Critical Pitfalls to Avoid

• Unnecessary imaging in clear cases leads to additional unnecessary benign biopsies 1, 3
• Failing to distinguish true gynecomastia from pseudogynecomastia in obese patients 3
• Missing breast cancer, particularly in older men (median age 63 years) and those with BRCA2 mutations or Klinefelter syndrome 1, 3
• Gynecomastia persisting beyond 12 months often becomes fibrotic and less responsive to medical therapy 3