Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India.

OBJECTIVE: To study the genetic mutations and clinical profile in children with neonatal diabetes mellitus.

METHODS: Genetic evaluation, clinical management and follow-up of infants with neonatal diabetes.

RESULTS: Eleven infants were studied of which eight had permanent neonatal diabetes. Median age at presentation was 8 weeks and mean (SD) birth weight was 2.4 (0.5) kg. Pathogenic genetic mutations were identified in 7 (63.6%) children; 3 infants with mutations in KCNJ11 gene and 1 in ABCC8 were switched to oral sulfonylureas; 2 infants had mutations in INS and 1 in ZFP57.

CONCLUSION: Neonatal diabetes mellitus is a heterogeneous disorder. Identification of genetic cause guides clinical management.