Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the U.K. pediatric diabetes population with monogenic diabetes

Shepherd, Maggie; Shields, Beverley; Hammersley, Suzanne; Hudson, Michelle; McDonald, Timothy J.; Colclough, Kevin; Oram, Richard A.; Knight, Bridget; Hyde, Christopher; Cox, Julian; Mallam, Katherine; Moudiotis, Christopher; Smith, Rebecca; Fraser, Barbara; Robertson, Simon; Greene, Stephen; Ellard, Sian; Pearson, Ewan R.; Hattersley, Andrew T.

doi:10.2337/dc16-0645

Cited by 236Diabetes and associated disordersPancreatic function and diabetesDiabetes Management and Research

Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the U.K. pediatric diabetes population with monogenic diabetes

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Shepherd, Maggie, Shields, Beverley, Hammersley, Suzanne, Hudson, Michelle, McDonald, Timothy J., Colclough, Kevin, Oram, Richard A., Knight, Bridget +11 more·2016·Diabetes Care

DOI 10.2337/dc16-0645PMC PMC5018394

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Abstract

OBJECTIVE: Monogenic diabetes is rare but is an important diagnosis in pediatric diabetes clinics. These patients are often not identified as this relies on the recognition of key clinical features by an alert clinician. Biomarkers (islet autoantibodies and C-peptide) can assist in the exclusion of patients with type 1 diabetes and allow systematic testing that does not rely on clinical recognition. Our study aimed to establish the prevalence of monogenic diabetes in U.K. pediatric clinics using a systematic approach of biomarker screening and targeted genetic testing. RESEARCH DESIGN AND METHODS: We studied 808 patients (79.5% of the eligible population) <20 years of age with diabetes who were attending six pediatric clinics in South West England and Tayside, Scotland. Endogenous insulin production was measured using the urinary C-peptide creatinine ratio (UCPCR). C-peptide–positive patients (UCPCR ≥0.2 nmol/mmol) underwent islet autoantibody (GAD and IA2) testing, with patients who were autoantibody negative undergoing genetic testing for all 29 identified causes of monogenic diabetes. RESULTS: A total of 2.5% of patients (20 of 808 patients) (95% CI 1.6–3.9%) had monogenic diabetes (8 GCK, 5 HNF1A, 4 HNF4A, 1 HNF1B, 1 ABCC8, 1 INSR). The majority (17 of 20 patients) were managed without insulin treatment. A similar proportion of the population had type 2 diabetes (3.3%, 27 of 808 patients). CONCLUSIONS: This large systematic study confirms a prevalence of 2.5% of patients with monogenic diabetes who were <20 years of age in six U.K. clinics. This figure suggests that ∼50% of the estimated 875 U.K. pediatric patients with monogenic diabetes have still not received a genetic diagnosis. This biomarker screening pathway is a practical approach that can be used to identify pediatric patients who are most appropriate for genetic testing.

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Atypical diabetes is becoming increasingly difficult to precisely define in the absence of a definitive set of tests for either type 1 or type 2 diabetes.
“although admittedly, atypical diabetes is becoming increasingly dif fi cult to precisely de fi ne in the absence of a de fi nitive set of tests for either type of diabetes (158 -160,163 -169)”
From 2. Diagnosis and Classification of Diabetes: Standards of Care in Diabetes—2024 (2024) · cites this paper as [165]
The Discussion reports five pediatric patients (0.6%) whose diabetes was atypical and hard to classify, supporting the difficulty of defining some cases. It does not say classification is becoming increasingly difficult or attribute that difficulty to an absence of definitive tests for both type 1 and type 2 diabetes; instead, it reports that testing and clinical criteria could classify over 99% of cases. (LLM, conf=0.86)
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Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center
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Authors: Shepherd, M., Shields, B., Hammersley, S., Hudson, M., McDonald, T. J., Colclough, K., Oram, R. A., Knight, B., Hyde, C., Cox, J., Mallam, K., Moudiotis, C., Smith, R., Fraser, B., Robertson, S., Greene, S., Ellard, S., Pearson, E. R., & Hattersley, A. T.
Affiliations: University of Exeter (GB)
Royal Devon & Exeter NHS Foundation Trust (GB)
North Devon District Hospital (GB)
Royal Cornwall Hospital Trust (GB)
Plymouth Hospital (GB)
Torbay and South Devon NHS Foundation Trust (GB)
University of Dundee (GB)
Corresponding author: Shepherd, Maggie
ORCID: Shepherd, Maggie
Shields, Beverley
Hudson, Michelle
McDonald, Timothy J.
Colclough, Kevin
Oram, Richard A.
Knight, Bridget
Hyde, Christopher
Greene, Stephen
Ellard, Sian
Pearson, Ewan R.
Hattersley, Andrew T.
Venue: Diabetes Care
Publisher: American Diabetes Association
Published: 2016-06-06
Volume: 39
Issue: 11
Pages: 1879-1888
ISSN: 0149-5992 (ISSN-L)
1935-5548
DOI: 10.2337/dc16-0645
PMC: PMC5018394
OpenAlex: W2419234444
Cited by: 236
References: 34
Citations by year: 2026: 14 · 2025: 23 · 2024: 21 · 2023: 30 · 2022: 30 · 2021: 30 · 2020: 28 · 2019: 19 · 2018: 25 · 2017: 13 · 2016: 3
FWCI: 16.16
Type: journal article
Language: en
Open access: green
discovery.dundee.ac.uk
Licence: other-oa
www.diabetesjournals.org/content/license (vor, 136 d)
Locations: Diabetes Care (publishedVersion)
PubMed (publishedVersion)
Discovery Research Portal (University of Dundee) (publishedVersion, other-oa)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Open Research Exeter (University of Exeter) (acceptedVersion)
Figshare (submittedVersion)
Royal Devon and Exeter Research Repository (Royal Devon and Exeter) (submittedVersion)
Funders: Wellcome Trust and the Department of Health (HICF-1009-041)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
Health Sciences › Medicine › Surgery › Pancreatic function and diabetes
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes Management and Research
Keywords: monogenic diabetes, pediatric diabetes, prevalence, systematic screening, islet autoantibodies, glutamic acid decarboxylase antibodies, genetic testing, glucokinase, HNF1A, HNF4α, HNF1B, ABCC8, insulin receptor, type 2 diabetes, genetic diagnosis
MeSH terms: Germinal Center Kinases, Adolescent, Autoantibodies, C-Peptide, Child, Child, Preschool, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Diagnosis, Differential, England, Female, Genetic Testing, Humans, Infant, Male, Receptor, Insulin, Scotland, Biomarkers, Antigens, CD, Prevalence, Protein Serine-Threonine Kinases, Sequence Analysis, DNA, Hepatocyte Nuclear Factor 1-alpha, Hepatocyte Nuclear Factor 1-beta, Hepatocyte Nuclear Factor 4, Young Adult, Sulfonylurea Receptors

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Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the U.K. pediatric diabetes population with monogenic diabetes

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