Tailoring an antihyperglycaemic regimen to a monogenic diabetes variant

Monogenic diabetes mellitus (MDM) is an under-recognised entity that can be effectively treated with personalised therapies tailored to specific variants. Current guidelines suggest considering MDM in antibody-negative, C peptide-retaining patients with impaired glucose metabolism, particularly those with a significant family history and healthy body mass index. Here, we present a case of a patient with an MDM phenotype, treated with otherwise typical escalations in therapy but with adverse side effects and ultimately inadequate glycaemic control. He was subsequently found to have a unique heterozygous genotypic variant, guiding management decisions that have resulted in a now-stable medication regimen with excellent glycaemic control over the ensuing 3 years. Given that MDM has been predicted to account for up to 5% of all diabetes cases, it is important for clinicians to be cognisant of specific presentation features and available screening modalities in order to confirm and treat this diagnosis with the greatest efficacy.