Investigation

The investigation of gynaecomastia will depend on the on history and examination findings. (1,2,3)

• should be aimed at seperating those with underlying endocrinopathy from those in whom the cause is idiopathic
  
  
• is not recommended for boys at puberty, for typical asymptomatic senile changes, for enlargement consisting mostly of adipose tissue, for men taking drugs known to cause gynaecomastia, or for physical findings strongly suggesting breast cancer
  • a UK national guidance has stated (4):
    
    
    • Do Not Investigate
      • Adolescents with physiological pubertal gynaecomastia
      • Elderly men with senile gynaecomastia
      • Men with a drug related cause (prescribed medication or recreational drug use)
      • Men with obvious breast cancer (needs urgent referral instead of investigation in primary care)
      • Men with fatty pseudogynaecomastia
        
        
    • Do Investigate
      • Eccentric hard masses
      • Rapid enlargement
      • Recent onset in lean men >20 years
      • Persistent painful gynaecomastia
      • Massive gynaecomastia in adolescents
      • Persistent gynaecomastia in adolescents, duration > 18-24 months
        
        
• initial laboratory evaluation include
  • thyroid-stimulating hormone
  • free thyroxine
  • serum creatinine
  • liver function tests including GGT
    
    
• if above investigations are normal a hormonal profile should be carried out
  • luteinizing hormone
  • testosterone
  • beta-human chorionic gonadotropin
  • alpha fetoprotein (4)
  • estradiol
    
  • prolactin
    
    
• further investigations:
  • mammography - not indicated unless cancerous changes are suspected
  • breast ultrasound - may be undertaken if surgery has been planned on, to distinguish adipose tissue from gynaecomastia (3)
  • if there is testicular pain or a mass, testicular ultrasound is indicated; an urgent specialist review should be undertaken if testicular mass
  • also testicular ultrasound is indicated (and specialist review) if any of the following abnormal blood results are noted: raised serum HCG, raised alpha Fetoprotein (4)
  • chest X-ray should be performed if lung cancer is suspected (3)
  • depending on the hormonal profile, chromosomal karyotyping may be carried out.
  • a hard irregular breast mass, nipple discharge, skin abnormality or chest wall mass all warrant urgent specialist review and a core biopsy (3)
    
    
• GPs - When and Where to Refer (4)
  
  
  • Abnormal endocrine (hormonal) blood results - note if a marginally raised prolactin then repeat before considering referral
    • Refer to Medical Endocrinology clinic
      
      
  • Abnormal sHCG or alpha fetoprotein blood results or abnormal finding on testicular USS
    • Refer to Urology Clinic urgently
      
      
  • Referral directly to the Breast Unit
    • In the presence of the following clinical scenarios, a referral directly to the local breast unit may be considered.
      • 1. Clinical suspicion of malignancy
        • >50 year old man with unilateral firm sub-areolar mass with or without nipple discharge or with associated skin change
        • Bloody nipple discharge
        • Unilateral ulceration of the nipple
        • Urgent referral is appropriate
      • 2. Unilateral lump with
        • No obvious physiological or drug cause
        • Increased risk - family history
        • Genetic conditions e.g. Klinfelter's Syndrome
        • Urgent referral is appropriate
      • 3. Persistent painful gynaecomastia (>6 months) with normal blood tests

Reference:

• (1) Braunstein GD. Clinical practice. Gynecomastia. N Engl J Med. 2007;357(12):1229-37.
• (2) Niewoehner CB, Schorer AE. Gynaecomastia and breast cancer in men. BMJ. 2008 Mar 29;336(7646):709-13.
• (3) Porter K. The Basics - GP management of gynaecomastia. GP magazine 29 February 2012
• (4) Association of Breast Surgery Summary Statement (June 2019). Investigation and management of gynaecomastia in primary and secondary care.