ArticleDiabetes care2016
Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes.
Article in Diabetes care, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 133 papers, 6 of them syntheses that pooled it.
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Who cites it
133 citing papers in PubMed, 6 syntheses or guidelines pooled it.
- Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome.Reviews in endocrine & metabolic disorders · 2024Pooled it
- Pooled it
- Diagnostic Test Accuracy of Urine C-peptide Creatinine Ratio for the Correct Identification of the Type of Diabetes: A Systematic Review.TouchREVIEWS in endocrinology · 2022Pooled it
- Causal variants in Maturity Onset Diabetes of the Young (MODY) - A systematic review.BMC endocrine disorders · 2021Pooled it
- Clinical and Genetic Characteristics ofJournal of diabetes research · 2021Pooled it
- Type 1 Diabetes in Children and Adolescents: A Position Statement by the American Diabetes Association.Diabetes care · 2018Guideline
- Beta cell function and insulin sensitivity in obese youth with maturity onset diabetes of youth mutations vs type 2 diabetes in TODAY: Longitudinal observations and glycemic failure.Pediatric diabetes · 2020 · on this mapTrial
- Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial.Genetics in medicine : official journal of the American College of Medical Genetics · 2018 · on this mapTrial
- The central role of the β-cell in diabetes: from monogenic forms to type 1, type 2, and gestational diabetes.Reviews in endocrine & metabolic disorders · 2026Review
- Maturity onset diabetes of the young in pregnancy: management, treatment and neonatal outcomes-a systematic review.Acta diabetologica · 2026Review
- [Genetic, endocrine, drug-induced and pancreatogenic forms of diabetes and exocrine pancreatic insufficiency (Update 2026)].Wiener klinische Wochenschrift · 2026Review
- Population Prevalence, Penetrance, and Mortality for Genetically Confirmed MODY.The Journal of clinical endocrinology and metabolism · 2026Article
- Molecular diagnosis of maturity-onset diabetes of the young via whole-exome sequencing: a cohort study in Taizhou, China.Endocrine · 2026Article
- The evolution of C-peptide's role in diabetes care.Current opinion in endocrinology, diabetes, and obesity · 2026Review
- Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice.Frontiers in endocrinology · 2026Article
- Prediction of maturity-onset diabetes of the young subtypes using machine learning.Frontiers in digital health · 2026Article
- Predicting diagnostic gene biomarkers associated with immune infiltration in patients with diabetes.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas · 2026Article
- Antibody-Positive Type 1 Diabetes in a Family With a PathogenicJCEM case reports · 2025Article
- Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia.Molecular syndromology · 2025Article
- Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program.Journal of the Endocrine Society · 2025Article
73 more citing papers are in PubMed but not listed here.
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20 authors.
Funding
Abstract
objectiveMonogenic 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
methodsWe 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.
resultsA 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).
conclusionsThis 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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