Neonatal Diabetes: 20-Year Experience from a Tertiary Care Pediatric Diabetes Clinic in North India
Authors' conclusion
This study highlights the genetic heterogeneity of NDM in the North Indian population and emphasizes the significance of early genetic testing for personalized management. Empirical sulfonylurea trials proved successful in specific cases, considering that genetic testing is delayed in resource-limited settings.
Study context
- Population
- Children diagnosed with neonatal diabetes mellitus (NDM) between January 2005 and December 2024 at a tertiary care pediatric diabetes clinic in northern India; median age at diagnosis 13.2 (range 1.6–36.5) weeks10 females
- Participants
- 32 children
- Outcome
- Molecular characterization and clinical phenotype
Methodological detailssingle-centre, tertiary care pediatric diabetes clinic, Genetic testing performed using standard protocols
- Single-centre
- Tertiary care pediatric diabetes clinic
- Genetic testing performed using standard protocols
Main finding
As reported in the abstract
- Diabetic ketoacidosis at diagnosis
- 24 patients
- Pathogenic genetic variants confirmed
- 25 children
- KCNJ11 variants
- 11/25
- INS gene variants
- 4/25
- EIF2AK3 variants
- 3/25
Observational data: associations, not effects.
Further findings
Empirical SU trial
- Empirical SU trial initiated
- 22 infants
- Good response
- 13 (12 with KCNJ11 or ABCC8 variants)
- HbA1c, good SU responders vs other genetic variants (mmol/mol), significantly better
- 41 [38, 45] vs. 75 [52, 81]
HbA1c at follow-up · median follow-up 6.6 years
- Mean HbA1c
- 56.33 ± 18.55 mmol/mol
Deaths · median follow-up 6.6 years
- Deaths (both EIF2AK3 gene related)
- 2
Original publication
Neonatal Diabetes: 20-Year Experience from a Tertiary Care Pediatric Diabetes Clinic in North India. Horm Res Paediatr. Published 9 September 2025. doi:10.
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