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MEN 2 syndrome masquerading as MEN 1.

Tarek Ezzat1, Rajeev Paramesawaran, Ben Phillips

  • 1Department of Endocrine Surgery, John Radcliffe Hospital, Oxford, UK.

Annals of the Royal College of Surgeons of England
|September 5, 2012
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Multiple Endocrine Neoplasia type 1 (MEN 1) was initially suspected in a patient with hyperparathyroidism and Cushing's disease. Genetic confirmation revealed Multiple Endocrine Neoplasia type 2A (MEN 2A) with metastatic medullary thyroid cancer.

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Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Multiple Endocrine Neoplasia (MEN) syndromes are inherited disorders predisposing to tumors in endocrine glands.
  • MEN type 2A is characterized by medullary thyroid cancer, pheochromocytoma, and parathyroid hyperplasia.
  • Hyperparathyroidism is a common feature in both MEN 1 and MEN 2, complicating clinical diagnosis.

Observation:

  • A 68-year-old patient presented with clinical signs suggestive of MEN 1, including hyperparathyroidism and pituitary Cushing's disease.
  • Initial diagnosis of MEN 1 was made clinically, lacking genetic confirmation.
  • Subsequent investigations revealed the hyperparathyroidism to be associated with MEN 2A and metastatic medullary thyroid cancer.

Findings:

  • Clinical diagnosis of MEN 1 can be misleading without genetic confirmation.
  • MEN 2A can present with hyperparathyroidism, mimicking MEN 1.
  • Metastatic medullary thyroid cancer, a hallmark of MEN 2A, was the underlying pathology.

Implications:

  • Genetic testing is crucial for accurate diagnosis of MEN syndromes.
  • Misdiagnosis can delay treatment for aggressive conditions like metastatic medullary thyroid cancer.
  • Early and accurate diagnosis of MEN 2A is vital for improved patient prognosis and management.