Abstract
Multiple endocrine neoplasia syndromes (MEN syndrome) are rare autosomal dominantly inherited diseases with the occurence of tumors of two or more endocrine glands, with possible manifestation in early childhood. A late diagnosis of MEN syndrome can be fatal for an individual.
Early identification of at-risk individuals is therefore crucial for the prevention and treatment of potentially life-threatening endocrine and non-endocrine neoplasias. MEN 2B syndrome has the most serious prognosis due to highly aggrressive medullary thyroid carcinoma with early postnatal development and a high prevalence of de novo mutations.
Knowledge of the non-endocrine features of this syndrome may lead to early diagnosis before the development of advanced malignant disease. We describe the latest knowledge about MEN syndromes with a focus on clinical symptoms, genetic background, genotype-phenotype correlation in MEN 2 syndromes, American Thyroid Association guedelines for screening of tumors and their treatment in children.