Multiple endocrine neoplasia syndromes

Abstract

The multiple endocrine neoplasia (MEN) syndromes are characterized by autosomal dominant inheritance with a high degree of penetrance but varying expression. This review gives a classification of these syndromes and a short summary of the historical background. The pathogenesis of the disease and its possible origin in the APUD cell system are discussed together with the mechanisms underlying normal and ectopic hormone production by MEN tumors on the basis of recent findings in molecular endocrinology. The natural history and the clinical manifestations of the different syndromes are described. The sensitivity and discriminative capacity of the tests used to detect the syndromes in an early stage are compared. The choice of therapy and criteria for the timing and extensiveness of treatment are also considered. Lastly, problems associated with the ethical and legal aspects of screening, central registration, and monitoring of relatives at risk are described.