MEN 2 syndrome masquerading as MEN 1

Department of Endocrine Surgery, John Radcliffe Hospital, Oxford, UK.
Annals of The Royal College of Surgeons of England (Impact Factor: 1.27). 09/2012; 94(6):e206-7. DOI: 10.1308/003588412X13171221590818
Source: PubMed


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.

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Available from: Tarek Ezzat, Apr 15, 2014