Introduction: Maturity onset diabetes of the young (MODY) may represent 2-5% of diabetes under 30-35 years. Rarely MODY may be due to mutation in the INS gene. HNF1A mutations are well described causes of MODY and may be treated with low dose sulfonylurea. Our aim was to compare clinical features and treatment of INS-MODY with HNF1A-MODY cohort population.
Methods: Participants enrolled through the U.S. Monogenic Diabetes Registry, with Sanger or next-generation sequencing completed with causal mutations found in INS or HNF1A, diagnosed after 13 months of age. Those with neonatal diabetes due to INS were excluded.
Results: Each group shared similar demographics (Table 1). Common presenting symptoms in each group included polyuria, polydipsia, weight loss, fatigue (Table 1). In the INS cohort, all showed residual c-peptide. None reported DKA. The majority had used insulin, though there were a variety of treatment modalities, even among those with the same mutation (Figure 1). For HNF1A cohort, over 60% had been on insulin or sulfonylurea, with 40% having discontinued insulin.
Conclusion: Review of treatments in INS cohort consist of multiple agents with majority using insulin at some point. If clinical suspicion of MODY, genetic testing may help inform treatment. It appears that some variants of INS-MODY lead to a progressive disease eventually requiring insulin therapy and early insulin may improve outcomes.
M. McCauley: None. S. Korkmaz: None. L.R. Letourneau-Freiberg: None. R.N. Naylor: None. S.W. Greeley: None.
National Institute of Diabetes and Digestive and Kidney Diseases (R01DK104942, P30DK0205950); National Center for Advancing Translational Sciences (UL1TR002389)
