Abstract
Monogenic diabetes (MGD) is diabetes caused by a defect in one or more genes or chromosomal locus. Currently, mutations in more than 50 genes have been identified resulting in different forms of MGD through various mechanisms. With development and availabilities of genetic testing, MGD became increasingly recognized and accounts for up to 6.3% of diabetes caseload in children and adolescent.The main subtypes of MGD are neonatal diabetes, MODY and monogenic insulin resistance syndromes. The phenotype of individuals with MGD can mimic type 1 or type 2 diabetes, however recognizing MGD would allow selecting the best treatment for the patients and their families and avoid the need for invasive investigations to explains some associated features. For making the diagnosis of MGD, we have moved from the traditional phenotype-based targeted testing to the comprehensive next-generation sequencing approach, which allows earlier molecular diagnosis that can guide treatment.
The presentation will summarize the aetiology, mechanism, genotype, phenotype and management of MGD. The recent ISPAD guideline and future perspective in MGD will also be highlighted.
