Abstract 61: Prevalence and clinical profile of maturity onset diabetes of the young among people with diabetes attending a tertiary care institute in North India

Abstract

Background: Maturity onset diabetes of young (MODY) is considered to be the most underdiagnosed condition and correct diagnosis has a definite bearing on the outcome and clinical course of the disease.Aims and Objectives: To determine the prevalence and clinical profile of MODY among young diabetic patients attending Endocrinology department at SKIMS, India.Methods: This was a cross-sectional study involving 1094 consenting patients with diabetes and age of onset of diabetes (DM) ≤30 years (<25 years in 858 patients). All patients were screened for MODY using clinical criteria and MODY probability calculator (available on diabetesgenes.org). Patients with high clinical probability of MODY and negative anti-GAD65 antibody but fasting serum C-peptide levels >0.6 ng/ml were subjected to the Ala98Val polymorphism (SNP) in HNF1α gene.Results: The prevalence of MODY as per clinical criteria was 7.7%. The patients with MODY were younger (p<0.001), leaner (p<0.001), had younger age at onset of DM (p<0.001) and lower frequency of features of insulin resistance. Among 40patients who were subjected to SNP analysis in HNF1α gene (MODY3), the mutant genotype was seen in 20 (50%) patients.Conclusion: We report a higher prevalence of MODY3 in our young diabetic patients. A high index of suspicion is required to diagnose MODY as misdiagnosis and inappropriate treatment may have a significant impact on quality of life.