Current Insights into the Genetic Basis of Diabetes Mellitus in Children and Adolescents

Diabetes mellitus (DM) is one of the most common chronic diseases in children and adolescents, and type 1 DM accounts for more than 95% of cases. Nevertheless, over the last years it has become apparent that not all cases of DM presenting in children have an autoimmune basis. In addition to type 2 DM, which continues to be an infrequent diagnosis among pediatric patients in most countries worldwide, several forms of monogenic DM may present during childhood and are responsible for the disease in 1-3% of patients. In these disorders, DM is usually associated with either specific clinical syndromes or a characteristic age of onset. Molecular diagnosis, increasingly available, improves both clinical management and quality of life, and is also important for genetic counselling. This review aims to provide physicians taking care of children with DM with some important clues in order to make an accurate diagnosis in these patients and understand its implication in clinical management.