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Snapshot
  •  A 36-year-old women complains of severe episodes of headache, tremulousness, palpitations, and anxiety. The patient has noted a change in her voice and she has difficulty swallowing solids. On PE there is a palpable, nontender swelling in the front of her neck that moves with deglutition. There is no cervical lymphadenopathy. Lab studies show hypercalcemia. An X-ray of the cervical region shows irregular calcifications in mass, while an MRI of the abdomen confirms the presence of bilateral adrenal lesions.  (MEN Type IIA)
Introduction
  • Cancer syndrome with several associated endocrine neoplasms
    • concurrence occurs secondary to each organ's common embryologic origin
    • germ-line mutation in neural crest cells leads to tumors in adrenal medulla and thyroid, as both chromaffin and parafollicular C-cells originate in the neural crest 
  • Genetics
    • All MEN syndromes have AD inheritance
  • There are 3 types (see below)
    • MEN I (Wermer's syndrome)
    • MEN IIA (Sipple's syndrome)
    • MEN IIB
      • MEN IIa and IIb share several common features (the reason it is not MEN II and III)
        • medulllary thyroid carcinoma
        • pheochromocytoma
        • ret association
MEN I (Wermer's Syndrome)
  •  Characterized by
    • parathyroid tumors 
    • pituitary tumors (prolactin or GH)
    • pancreatic islet cell/endocrine tumors 
      • Zollinger-Ellison (ZE) syndrome
      • insulinomas
      • VIPomas
      • glucagonomas
  • Presentation  
    • gastric ulcers
      • secondary to gastrin production by ZE syndrome
    • kidney stones
      • secondary to increased serum calcium as a result of increased PTH
MEN IIA (Sipple's syndrome)
  •  Characterized by 
    • medullary thyroid carcinoma
      • secretes calcitonin
    • pheochromocytoma
    • parathyroid tumors
  • Genetics
    • associated with proto-oncogene ret 
      • tyrosine kinase
MEN IIB
  • Characterized by
    • medullary thyroid carcinoma
    • marfanoid habitus
    • mucosal neuromas
    • pheochromocytoma
    • oral/intestinal ganglioneuromatosis
  • Genetics
    • associated with loss of ret 
 

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