MEN 2 syndrome masquerading as MEN 1

Ann R Coll Surg Engl. 2012 Sep;94(6):e206-7. doi: 10.1308/003588412X13171221590818.

Abstract

Patients with multiple endocrine neoplasia (MEN) type 2A develop medullary thyroid cancer, which is associated with poor prognosis in its metastatic stage. Hyperparathyroidism is a common finding in both MEN 1 and 2. We report a 68-year-old patient diagnosed clinically with MEN 1 based on the presence of hyperparathyroidism and pituitary Cushing's disease with no supporting genetic evidence. The hyperparathyroidism was later found to be part of MEN 2A with underlying metastatic medullary thyroid cancer. We highlight the importance of genetic confirmation before a diagnosis of MEN 1 is made as other more serious pathologies might be overlooked.

Publication types

  • Case Reports

MeSH terms

  • Adenoma / complications*
  • Adenoma / diagnosis
  • Adrenal Gland Neoplasms / complications*
  • Adrenal Gland Neoplasms / diagnosis
  • Aged
  • Diagnosis, Differential
  • Early Detection of Cancer
  • Humans
  • Male
  • Multiple Endocrine Neoplasia Type 1 / diagnosis*
  • Multiple Endocrine Neoplasia Type 2a / diagnosis*
  • Parathyroid Neoplasms / complications*
  • Parathyroid Neoplasms / diagnosis
  • Pheochromocytoma / complications*
  • Pheochromocytoma / diagnosis