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Children With Diabetes and At Least One Non-Autoimmune Feature Should Be Considered for Monogenic Diabetes Testing

Rebecca Myers1, Melek Yildiz2, Mehmet Nuri Ozbek3

  • 1Institute of Biomedical and Clinical Science, University of Exeter, Exeter EX2 5DW, UK.

The Journal of Clinical Endocrinology and Metabolism
|August 1, 2025
PubMed

Insights

Genetic testing for monogenic diabetes is recommended for children with diabetes and non-autoimmune extra-pancreatic features. Islet-autoantibodies and type 1 diabetes genetic risk score (T1DGRS) aid in prioritizing genetic testing.

Area of Science:

  • Pediatric Endocrinology
  • Clinical Genetics
  • Diabetes Research

Background:

  • Current monogenic diabetes testing in children primarily focuses on Maturity Onset Diabetes in the Young (MODY) or known genetic syndromes.
  • A broader diagnostic approach may be beneficial for children presenting with syndromic diabetes.

Purpose of the Study:

  • To evaluate the utility of genetic testing for monogenic diabetes in all children with diabetes exhibiting at least one non-autoimmune extra-pancreatic feature.
  • To determine if expanded genetic screening is warranted for this patient group.

Main Methods:

  • Recruitment of 183 children with diabetes and at least one non-autoimmune extra-pancreatic feature.
  • Measurement of islet-autoantibodies and type 1 diabetes genetic risk score (T1DGRS).
  • Targeted next-generation sequencing to identify known monogenic diabetes causes.

Main Results:

  • Monogenic diabetes was confirmed in 33% (61/183) of children.
  • Recessive aetiologies were common (84%), with WFS1, SLC19A2, and SLC29A3 variants being most frequent.
  • Higher parental consanguinity and multi-systemic features were observed in monogenic cases.
  • Low T1DGRS and negative/untested antibodies increased the likelihood of monogenic diabetes.

Conclusions:

  • Monogenic diabetes testing should be considered for children with diabetes and non-autoimmune extra-pancreatic features.
  • Islet-autoantibody and T1DGRS measurements can effectively prioritize genetic testing in these children.
Abstract

Keywords:
diabetesgenetic testingmonogenic diabetespediatricssyndromic diabetes

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