Laboratory Workup for New Onset Gynecomastia
For new onset gynecomastia, a comprehensive laboratory evaluation should include testosterone, estradiol, LH, FSH, TSH, prolactin, hCG, AFP, and liver and renal function tests to identify underlying pathological conditions. 1, 2
Initial Assessment Considerations
- Gynecomastia is defined as actual glandular breast tissue enlargement, distinct from pseudogynecomastia (fatty tissue deposition) 1
- Proper investigation may reveal an underlying pathology in 45-50% of adult cases 2
- Laboratory testing should be targeted based on clinical suspicion after thorough history and physical examination 2
Recommended Laboratory Tests
Hormonal Evaluation
- Testosterone (T): To assess for hypogonadism
- Estradiol (E2): To evaluate for increased estrogen levels
- Sex hormone-binding globulin (SHBG): To determine bioavailable testosterone
- Luteinizing hormone (LH) and Follicle-stimulating hormone (FSH): To differentiate primary from secondary hypogonadism
- Thyroid-stimulating hormone (TSH): To rule out hyperthyroidism
- Prolactin: To assess for hyperprolactinemia
Tumor Markers
- Human chorionic gonadotropin (hCG): To screen for testicular and other germ cell tumors
- Alpha-fetoprotein (AFP): To screen for testicular tumors
Metabolic Assessment
- Liver function tests: To evaluate for liver disease (cirrhosis can cause hormonal imbalances)
- Renal function tests: To assess for renal insufficiency
- Morning urine and serum osmolality: If there are symptoms suggesting endocrine disorders 3
Special Considerations
- Testicular ultrasound is recommended as the detection of testicular tumors by palpation has low sensitivity 2
- For men ≥25 years with breast pain, diagnostic mammography or digital breast tomosynthesis is recommended as the initial imaging study 1
- Core needle biopsy should be performed if clinical picture is suspicious for malignancy 2
Algorithm for Laboratory Workup
- Basic hormonal panel: Testosterone, estradiol, LH, FSH, TSH, prolactin
- Tumor markers: hCG, AFP (particularly important in younger men)
- Metabolic assessment: Liver and renal function tests
- Additional tests based on clinical suspicion:
- Karyotype if gonadoblastoma is suspected in pre-pubertal patients
- Adrenal function tests if Cushing's syndrome is suspected
- Drug screening if medication or substance abuse is suspected
Common Pitfalls to Avoid
- Don't assume medication-induced gynecomastia precludes further investigation; a detailed workup is still warranted 2
- Don't overlook testicular examination and ultrasound, as testicular pathology is an important cause of gynecomastia
- Don't delay evaluation in adults, as proper investigation may reveal underlying pathology in nearly half of cases 2
- Don't forget to consider common medications (spironolactone, antipsychotics, 5-α reductase inhibitors) as potential causes 1
By systematically evaluating these laboratory parameters, clinicians can identify the underlying cause of gynecomastia and develop an appropriate treatment plan that addresses the root cause rather than just the symptoms.