2405-P: Profile of Neonatal Diabetes Mellitus and Associated Syndromes at a Diabetes Centre in India

Introduction and Objective: Neonatal diabetes mellitus (NDM), defined as persistent hyperglycaemia occurring within the first 1 year of life, can present as an isolated abnormality or as part of well-defined syndromes. Most cases of neonatal diabetes are associated with defects in one of around 40 genes. We attempted to delineate the genetic profile of NDM and associated syndromes in India and correlate it with treatment strategies. Methods: Children with neonatal diabetes (n= 439) and syndromes (n = 172), negative for three pancreatic autoantibodies, and referred to a tertiary diabetes centre in India, underwent targeted NGS of 40 genes after written informed consent/ assent. Pathogenicity of mutations was defined using ACMG and AMP guidelines. Results: Among 439 children with NDM, pathogenic/likely pathogenic mutations were found in 143 (Table 1). More than half of these (58.7%) involved KATP genes, of whom about 85% were successfully transitioned from insulin to oral sulfonylurea. Among syndromic forms, mutations were found in 133 of 172 (77%). The nature of the genes involved, determined treatment plan in syndromic forms of NDM. Conclusion: This is one of the largest series of NDM and associated syndromes in India and demonstrates the importance of early genetic investigation for tailored treatment and management to improve outcomes. Disclosure V. Radha: None. S. Kanthimathi: None. G. Sundaramoorthy: None. J. Sneha: None. R. Anjana: None. R. Unnikrishnan: None. V. Mohan: None. Funding Indian Council of Medical Research (No.57/2/2014-NCD-II)