[Genetic basis of endocrine-metabolic diseases]

Endocrine-metabolic diseases are very important because of either the variety of affected organs and the great social impact of at least some conditions, due to their high incidence and morbidity in the general population. A multifactorial origin has been recognized in many endocrine-metabolic diseases; in fact genetic and environmental risk factors contribute to the expression of pathologic phenotype. Recent progresses in molecular genetics allowed development of specific genetic tests which improved diagnosis of monogenic diseases and ascertainment of genetic susceptibility for some multifactorial pathologies. Therefore, management of the most important endocrine-metabolic diseases should take into account the interaction between improvement of the diagnosis and primary prevention actions through modification of environmental and lifestyle-related risk factors.