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Identifying subtypes of monogenic diabetes

Agata Juszczak & Katharine Owen

Monogenic diabetes is estimated to account for 0.5–1.2% of all diabetes cases and remains underdiagnosed. It consists of a variety of subtypes associated with mutations in more than 25 genes. The main groups of monogenic diabetes include maturity-onset diabetes of the young (MODY), permanent and transient neonatal diabetes and mitochondrial diabetes. MODY is the most common and is caused most frequently by mutations in transcription factors (HNF1A, HNF4A and HNF1B) or the enzyme GCK. The characteristics of MODY include young-onset nonautoimmune diabetes, usually with a family history, maintenance of endogenous insulin secretion and absence of features of insulin resistance. Correct molecular diagnosis allows personalized treatment and, in types sensitive to sulfonylureas, discontinuation of insulin allows improved diabetes control.