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

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

  • By

  • Rebecca Myers

  • Melek Yildiz

  • Mehmet Nuri Ozbek

  • Jaida Manzoor

  • Mohsina Ibrahim

  • Chittaranjan Yajnik

  • Muge Atar

  • Zeynep Şiklar

  • Sezer Acar

  • Evgenia Globa

  • Omneya Magdy Omar

  • Huseyin Demirbilek

  • Samar Hassan

  • Korcan Demir

  • Misbah Hanif

  • Tulay Guran

  • Nihal Hatipoglu

  • Cemil Koçyiğit

  • Kevin Colclough

  • Jayne Houghton

  • Andrew Hattersley

  • Rachel Van Heugten

  • Kashyap Patel

  • Monogenic Diabetes Consortium

  • Y Abdelmeguid

  • S Abourazzak

  • A Annamalai

  • E Bhowmik

  • G Catli

  • S Chapman

  • H Eideh

  • V Jain

  • T Kontbay

  • V Mulliqi Kotori

  • G Supriya

  • S Musa

  • M Šandrk Beslać

  • M Sharaf

  • J Yong

  • G Yesiltepe Mutlu

  • R Yildirim

  • O Yilmaz

  • M Berberoglu

  • T Akcay

  • C Datar

  • S Dhadge

  • K Jog

  • August 1, 2025

  • 0 min

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Objective:

To determine if genetic testing for monogenic diabetes should be performed for all children with diabetes and at least one clearly defined non-autoimmune extra-pancreatic feature.

Key Findings:
  • 33% of children had confirmed monogenic diabetes, highlighting the need for genetic testing.
  • 84% of monogenic cases had recessive etiologies, primarily involving WFS1, SLC19A2, and SLC29A3, indicating specific genetic targets for testing.
  • Higher parental consanguinity (62% vs 19%) and multi-organ system features (53% vs 28%) were observed in monogenic cases, suggesting a genetic basis for these features.
  • Children with low T1DGRS and negative/untested antibodies were more likely to have a monogenic cause, emphasizing the importance of these biomarkers in testing.
Interpretation:

Children with diabetes and at least one non-autoimmune extra-pancreatic feature should be considered for monogenic diabetes testing, as islet-autoantibodies and T1DGRS can significantly aid in prioritizing genetic testing, potentially improving patient outcomes.

Limitations:
  • Potential for excessive testing in consanguineous populations, which may lead to misinterpretation of results and unnecessary anxiety for families.
  • Limited research on recessively inherited diabetes syndromes, which may hinder accurate diagnosis and treatment.
Conclusion:

Genetic testing for monogenic diabetes is warranted in pediatric patients with specific clinical features to guide treatment and management.

Original Source(s)

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

  • by Rebecca Myers, Melek Yildiz, Mehmet Nuri Ozbek, Jaida Manzoor, Mohsina Ibrahim, Chittaranjan Yajnik, Muge Atar, Zeynep Şiklar, Sezer Acar, Evgenia Globa, Omneya Magdy Omar, Huseyin Demirbilek, Samar Hassan, Korcan Demir, Misbah Hanif, Tulay Guran, Nihal Hatipoglu, Cemil Koçyiğit, Kevin Colclough, Jayne Houghton, Andrew Hattersley, Rachel Van Heugten, Kashyap Patel, Monogenic Diabetes Consortium, Y Abdelmeguid, S Abourazzak, A Annamalai, E Bhowmik, G Catli, S Chapman, H Eideh, V Jain, T Kontbay, V Mulliqi Kotori, G Supriya, S Musa, M Šandrk Beslać, M Sharaf, J Yong, G Yesiltepe Mutlu, R Yildirim, O Yilmaz, M Berberoglu, T Akcay, C Datar, S Dhadge, K Jog

  • August 1, 2025

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