Not quite type 1 or type 2, what now? Review of monogenic, mitochondrial, and syndromic diabetes

Abstract

Diabetes mellitus is a heterogeneous group of conditions defined by resultant chronic hyperglycemia. Given the increasing prevalence of diabetes mellitus and the increasing understanding of genetic etiologies, we present a broad review of rare genetic forms of diabetes that have differing diagnostic and/or treatment implications from type 1 and type 2 diabetes. Advances in understanding the genotype-phenotype associations in these rare forms of diabetes offer clinically available examples of evolving precision medicine where defining the correct genetic etiology can radically alter treatment approaches. In this review, we focus on forms of monogenic diabetes, mitochondrial diabetes, and syndromic diabetes.

Keywords: Diabetes mellitus; Maturity onset diabetes of the young (MODY); Mitochondrial diabetes; Monogenic diabetes; Syndromic diabetes.