I G Gladys CarreroLía Belandria2026-03-222026-03-222016http://erevistas.saber.ula.ve/index.php/actabioclinica/article/download/8090/8032https://andeanlibrary.org/handle/123456789/65351Multiple Endocrine Neoplasia (MEN) consist of several autosomal- dominantly inherited syndromes that are expressed as endocrinopathies. The highly penetrant germline mutations predispose patients to tumor development in hormone-secreting cells. In MEN type 1, mutations in the tumor suppressor gene MEN1 increase the risk of developing pituitary, parathyroid and pancreatic islet tumors, whereas in MEN type 2, mutations of the proto-oncogene RET increase the risk for medullary thyroid carcinoma, parathyroid tumors and pheochromocytoma. Identification of marfanoid habitus and mucosal neuromas allow to differentiate MEN type 2B from type 2A. Accurate clinical diagnosis of individuals and families at risk of harboring a germline RET mutation is critical for the prevention and management of potentially life-threatening neoplasms. This review summarizes the clinical description of MEN type 1 and type 2, as well as, diagnosis, pathogenesis, testing strategies, and aspects for genetic counseling.esMultiple endocrine neoplasiaMEN1MedicinePheochromocytomaGermline mutationThyroid carcinomaMedullary carcinomaPathogenesisMultiple endocrine neoplasia type 2Cancer researcharticle