Endocrine Abstracts

Introduction: Multiple endocrine neoplasia (MEN) type 1 is a rare congenital disease with genetic background. The MEN-1 gene encodes menin protein, that acts as a tumor suppressor. Mutation of one allele and the inactivation of the other allele of this gene lead to clonal proliferation and to the development of tumors. The clinical manifestation of MEN type 1 is a combination of endocrine (parathyroid adenomas, entero-pancreatic neuroendocrine tumors, pituitary tumors) and non-endocrine tumors.

Case report: A 38-year old male patient’s investigation was initiated by diffuse disturbances of bone metabolism. Diagnostic procedures revealed presence of primary hyperparathyroidism due to a parathyroid adenoma associated with a pituitary adenoma, a malignant pancreatic neuroendocrine tumor, neuroendocrine cancer of the thymus, hormonally inactive bilateral adrenocortical adenomas and a non-endocrine tumor (facial angiofibroma). The co-existence of all these components witnessed for the diagnosis of MEN type 1. The parathyroidic, pancreatic neuroendocrine and the thymic tumors were surgically removed. For his hyperprolactinaemia and the pancreatic and thymic tumors, he has been kept under continuous bromocriptine and somatostatin analogue therapies, simultaneously. The MEN-1 mutation screening proved a new stop codon mutation: CAG7TAG leading to early stop of protein synthesis. One of the two daughters of the patient was also positive for the same mutation, however, she has not presented any clinical symptoms so far. Their genetically positive older brother (18 years) suffered from hypoglycaemias due to pancreas neuroendocrine tumor. In addition he has hyperparathyroidism that has not yet been operated.

Conclusion: In the present family history, the index patient showed all the major components of MEN type 1. With the aid of genetic screening, the clinical diagnosis was confirmed and the affected family members have been identified. Early diagnostics, continuous observation and initiation of proper therapeutical approaches for their presumed MEN-1 associated tumors became possible.