Children With Diabetes and At Least One Non-Autoimmune Feature Should Be Considered for Monogenic Diabetes Testing - Scorecard - 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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Clinical Scorecard: Evaluation of Monogenic Diabetes Testing in Pediatric Patients Exhibiting Diabetes Alongside a Non-Autoimmune Characteristic

At a Glance

CategoryDetail
ConditionMonogenic diabetes with non-autoimmune extra-pancreatic features (syndromic diabetes) in children
Key MechanismsGenetic variants causing monogenic diabetes, predominantly recessive mutations in WFS1, SLC19A2, and SLC29A3 genes
Target PopulationChildren with diabetes onset between 9 months and 18 years exhibiting at least one non-autoimmune extra-pancreatic feature
Care SettingPediatric endocrinology clinics, especially in populations with high consanguinity

Key Highlights

  • 33% of children with diabetes and at least one non-autoimmune extra-pancreatic feature had confirmed monogenic diabetes.
  • 84% of monogenic cases had recessive etiologies, with WFS1 variants being most common.
  • Higher parental consanguinity and involvement of multiple organ systems were associated with monogenic diabetes.

Guideline-Based Recommendations

Diagnosis

  • Consider genetic testing for monogenic diabetes in all children with diabetes and at least one non-autoimmune extra-pancreatic feature.
  • Use islet-autoantibody testing (GAD, IA-2, ZnT8) and type 1 diabetes genetic risk score (T1DGRS) to prioritize patients for genetic testing.

Management

  • Establishing a monogenic diagnosis guides targeted treatment (e.g., thiamine for thiamine-responsive megaloblastic anemia syndrome).
  • Use diagnosis to inform prognosis and management of associated complications (e.g., neurological features in Wolfram syndrome, cardiomyopathy in MIDD).

Monitoring & Follow-up

  • Monitor for development of syndrome-specific complications based on genetic diagnosis.
  • Regular assessment of multiple organ systems due to frequent multisystem involvement.

Risks

  • Potential for underdiagnosis due to variable clinical presentation and novel monogenic subtypes.
  • Risk of excessive testing in consanguineous populations where additional features may be coincidental.

Patient & Prescribing Data

Children with diabetes and at least one non-autoimmune extra-pancreatic feature, including those from consanguineous backgrounds

Genetic diagnosis enables targeted therapies and informs prognosis; prioritization of genetic testing can be refined using islet-autoantibody status and T1DGRS.

Clinical Best Practices

  • Perform comprehensive genetic testing for monogenic diabetes in children with diabetes plus any non-autoimmune extra-pancreatic feature.
  • Incorporate islet-autoantibody testing and T1DGRS to stratify likelihood of monogenic diabetes and optimize testing resources.
  • Recognize the high prevalence of recessive monogenic diabetes in consanguineous populations and consider this in diagnostic evaluation.
  • Assess for multisystem involvement to support syndromic diagnosis and guide management.

References

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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