Phenotypic heterogeneity in the diagnosis of MODY. An evidence-based approach to clinical diagnosis

Abstract

Abstract

To date, 14 genes related to MODY are recognized, however, the epidemiological variability with respect to Maturity Onset Diabetes (MODY) is well known, which currently refers to a heterogeneous group of monogenic forms of diabetes caused mainly by insulin secretion defects. Individual MODY subtypes are distinct entities that are defined by their underlying mutations. MODY caused by mutations in glucokinase (GCK-MODY, MODY2) and hepatocyte nuclear factor 1-alpha (HNF1A-MODY, MODY3) are the most prevalent forms, involving about three-quarters of all patients with MODY. The role of generalized genetic testing to detect MODY is controversial, given the associated cost, although that has dramatically decreased. Additionally, the impact of a definitive MODY diagnosis can be significant, especially for young individuals misdiagnosed with type 1 diabetes; These patients can often stop insulin and transition to SU therapy, with improved glycemic control. In the midst of a social reality that imposes limitations to establish diagnoses of high technical complexity as is the case of MODY, it is imperative to propose basic clinical and paraclinical alternatives that establish the highest degree of precision at the lowest cost, part of this premise is narrative review that allowed the clinician to refine the diagnosis in diabetes.