ArticleJournal of clinical research in pediatric endocrinology2021
Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey
Article in Journal of clinical research in pediatric endocrinology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- Early-Onset Diabetes in Ghana's Upper East Region-Insights From Hospital Data.Endocrinology, diabetes & metabolism · 2025Article
- Neonatal diabetes mellitus around the world: Update 2024.Journal of diabetes investigation · 2024Review
- A New Variant of theJournal of clinical research in pediatric endocrinology · 2024Article
- Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan.Pediatric diabetes · 2024Article
- Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt.Annals of pediatric endocrinology & metabolism · 2022Article
- Long-term follow-up of a child with Wolcott-Rallison syndrome.BMJ case reports · 2021Article
- Genetic Heterogeneity and Challenges in the Management of Permanent Neonatal Diabetes Mellitus: A Single-Centre Study from South India.Indian journal of endocrinology and metabolismArticle
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
Objective: Neonatal diabetes mellitus (NDM) may be transient or permanent, and the majority is caused by genetic mutations. Early diagnosis is essential to select the patients who will respond to oral treatment. In this investigation, we aimed to present the phenotype and genotype of our patients with NDM and share our experience in a single tertiary center Methods: A total of 16 NDM patients from 12 unrelated families are included in the study. The clinical presentation, age at diagnosis, perinatal and family history, consanguinity, gender, hemoglobin A1c, C-peptide, insulin, insulin autoantibodies, genetic mutations, and response to treatment are retrospectively evaluated. Results: The median age at diagnosis of diabetes was five months (4 days-18 months) although six patients with a confirmed genetic diagnosis were diagnosed >6 months. Three patients had Conclusion: Although NDM is defined as diabetes diagnosed during the first six months of life, and a diagnosis of type 1 diabetes is more common between the ages of 6 and 24 months, in rare cases NDM may present as late as 12 or even 24 months of age. Molecular diagnosis in NDM is important for planning treatment and predicting prognosis. Therefore, genetic testing is essential in these patients.
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