MEN IIA Multiple Endocrine Neoplasia

• Facts:
  AKA Sipple's syndrome
  
  Germ line mutation in the RET proto-oncogene localized on chromosome 10
• History / PE:
  Medullary thyroid carcinoma (MTC)
  Pheochromocytoma /adrenal hyperplasia
  Parathyroid hyperplasia (NOT adenoma!)
• Diagnosis:
  Calcitonin levels (MTC)
• Notes:
  Genetic testing is the recommended screening test and if positive, prophylactic total thyroidectomy is recommended because the risk of acquiring invasive MTC is almost 100%
• See Also:
  Multiple endocrine neoplasia
• Differential Diagnosis:
  MEN IIB (mucosal neuromas or Marfanoid body habitus)