ArticleDiabetology & metabolic syndrome2021
Clinical and genetic features of maturity-onset diabetes of the young in pediatric patients: a 12-year monocentric experience.
Article in Diabetology & metabolic syndrome, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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19 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Insights from basic adjunctive examinations of GCK-MODY, HNF1A-MODY, and type 2 diabetes: A systemic review and meta-analysis.Journal of diabetes · 2023Pooled it
- Hyperglycemia Due to HNF1A-Mutation-Associated Maturity-Onset Diabetes of the Young (MODY) in a 6-Year-Old Kazakh Girl.The American journal of case reports · 2026Article
- Article
- Case Report: A novel 1, 171 bp GCK promoter/exon 1 deletion in a Chinese pedigree: correcting a misdiagnosis of MODY10 based on an incidental INS variant.Frontiers in endocrinology · 2026Article
- 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
- Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores.Scientific reports · 2025Article
- Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience.Pediatric diabetes · 2025Article
- Article
- Case Report: New insights about clinical manifestations of patients withFrontiers in endocrinology · 2025Article
- Association between osteocalcin and residual β-cell function in children and adolescents newly diagnosed with type 1 diabetes: a pivotal study.Journal of endocrinological investigation · 2025Article
- MODY calculator applied in patients with clinical diagnosis of type 1 diabetes mellitus: Is a higher cutoff needed?Heliyon · 2024Article
- The Importance of Molecular Genetic Testing for Precision Diagnostics, Management, and Genetic Counseling in MODY Patients.International journal of molecular sciences · 2024Article
- Current views on etiology, diagnosis, epidemiology and gene therapy of maturity onset diabetes in the young.Frontiers in endocrinology · 2024Review
- From glucose sensing to exocytosis: takes from maturity onset diabetes of the young.Frontiers in endocrinology · 2023Review
- Monogenic diabetes in New Zealand - An audit based revision of the monogenic diabetes genetic testing pathway in New Zealand.Frontiers in endocrinology · 2023Article
- Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.Acta diabetologica · 2022Article
- Clinical Characteristics of Patients WithFrontiers in endocrinology · 2022Review
- Diabetes Mellitus Diagnosed in Childhood and Adolescence With Negative Autoimmunity: Results of Genetic Investigation.Frontiers in endocrinology · 2022Article
- Precision therapy for three Chinese families with maturity-onset diabetes of the young (MODY12).Frontiers in endocrinology · 2022Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundA retrospective observational study was conducted to assess the prevalence of maturity onset diabetes of the young (MODY) in a large paediatric population of Southern Italy newly diagnosed with diabetes. Clinical and genetic features of the identified MODY patients were also described.
methodsGenetic testing was performed in children and adolescents newly diagnosed with diabetes who presented autoantibody negativity and fasting C-peptide levels ≥ 0.8 ng/mL. Patients with a low insulin daily dose and optimal glycaemic control after two years from diabetes onset were also investigated for monogenic diabetes, regardless of their autoimmunity status and/or C-peptide levels.
resultsA prevalence of 6.5% of MODY was found. In particular, glucokinase-MODY was the most common type of MODY. The mean age at diagnosis was 9.1 years. Clinical presentation and biochemical data were heterogeneous also among patients belonging to the same MODY group.
conclusionsWe found a relatively high prevalence of MODY among paediatric patients with a new diagnosis of diabetes in comparison to literature data. Our findings highlight that a more detailed clinical evaluation along with easier and less expensive approachability to genetic testing may allow diagnosing an increasing number of MODY cases. A correct, prompt diagnosis is crucial to choose the most appropriate treatment and offer adequate genetic counselling.
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