Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of disorders characterized by dysfunction of beta-cells, and usually referred to monogenic forms of diabetes mellitus to distinguish them from the common types of disease such as type 1 or type 2 diabetes. Fourteen different MODY types have been identified so far based on different gene mutations.
Making the definite diagnosis is a challenge because of similar clinical phenotypes. Nevertheless, distinction is crucial as optimal treatments are different and the possibility of treating some of the types of MODY with oral agents.
Accurate diagnosis is significant for the proband, as well as for other members of the family. It is estimated that up to 1-2% of those diagnosed with gestational diabetes, type 1 diabetes or type 2 diabetes have MODY.
We will describe the results of molecular analyses for the currently known mutations in 11 children and their families with suspicion of MODY, the changes made in their treatment and further genetic counseling.
