ECE2017 Eposter Presentations: Calcium and Bone Endocrine tumours and neoplasia (7 abstracts)
Introduction: Multiple endocrine neoplasia (MEN) syndromes are rare entities characterized by the occurrence of tumors involving two or more endocrine glands in a single patient. These syndromes are classified as type 1 or 2 according to specific phenotypic characteristics. MEN2 encompasses three different subtypes: MEN2A, MEN2B and familial medullary thyroid carcinoma. More recently a syndrome related to mutations in the CDKN1B gene has been described the syndrome of multiple endocrine neoplasia 4. It is characterized by tumors of the parathyroid and pituitary glands.
A 36-years-old woman was submitted to parathyroidectomy and adrenalectomy in September/2010 due to suspected parathyroid adenoma and pheochromocytoma, both confirmed posteriorly by histology. The patient did not have a positive family history of pheochromocytoma, parathyroid adenomas or thyroid medullary carcinoma and, furthermore, genetic testing for MEN1 and MEN2 was negative. Genetic investigation for MEN 4 is pending. After surgery PTH levels normalized. However, there is a slow increase in PTH levels since 2012 and sestamibi scintigraphy shows signs of right parathyroid adenoma.
Conclusion: This case is highly suggestive of a MEN 2A due to the symbiotic appearance of parathyroid adenoma and pheochromocytoma in the same patient. A negative genetic test, however, raises suspicion for a possible different diagnosis MEN4 or even another genetic mutation.
20 May 2017 - 23 May 2017