Pediatric Multiple Endocrine Neoplasia Differential Diagnoses

Updated: Jul 15, 2021
  • Author: Alicia Diaz-Thomas, MD, MPH; Chief Editor: Robert P Hoffman, MD  more...
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Diagnostic Considerations

DDX of MEN syndromes requires the identification of the typical pattern of endocrine and other organ involvement. Insofar as these patterns may emerge over time, initial presentations may take into account other conditions that could be associated with the presenting syndrome. For example, in the patient who presents with pheochromocytoma, other conditions that would present with pheochromocytoma such as Von Hippel Lindau syndrome, hereditary paraganglioma-pheochromocytoma syndrome, or even neurofibromatosis 1 may be considered. For patients presenting with acromegaly, familial AIP mutations or carney complex may appear in the differential diagnosis. The same would be true of each of the presentations of the MEN syndromes. 

Note that for patients presenting with MTC and no other endocrine manifestations, familial MTC should be considered as there can be a variable penetrance. 

Differential Diagnoses