ECE2017 Eposter Presentations: Calcium and Bone Endocrine tumours and neoplasia (7 abstracts)
A suspicious case of multiple endocrine neoplasia
Teresa Alves Pereira 1 , Inês Furtado 2 , Ana Amado 1 , Lia Ferreira 1 , Raquel Almeida 1 & Isabel Palma 1
1Endocrinology Department, Centro Hospitalar e Universitário do Porto, Porto, Portugal; 2Internal Medicine Department, Centro Hospitalar e Universitário do Porto, Porto, Portugal.
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.
The case
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.
Volume 49
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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