ArticleThe Journal of clinical endocrinology and metabolism2024
The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.
Article in The Journal of clinical endocrinology and metabolism, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.Clinical genetics · 2025Pooled it
- Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune Diabetes.Diabetes · 2026Article
- Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review.Molecular and cellular pediatrics · 2026Article
- An Interesting Case of Sulphonylurea-Responsive Permanent Neonatal Diabetes Mellitus With Potassium Channel Mutation.Cureus · 2026Article
- The Genetic Landscape and Precision Medicine in Neonatal Diabetes Mellitus: From Molecular Mechanisms to Clinical Management.Current issues in molecular biology · 2026Review
- Global perspectives on monogenic forms of diabetes.Diabetologia · 2025Review
- Severe Insulin Resistance Syndromes: Clinical Spectrum and Management.International journal of molecular sciences · 2025Review
- Knowledge, Attitudes, and Practices in Neonatal Diabetes Mellitus Management: the JEnious-NeOnatal-DIabetes (JENODI) Survey.Diabetes therapy : research, treatment and education of diabetes and related disorders · 2025Article
- Neonatal diabetes mellitus around the world: Update 2024.Journal of diabetes investigation · 2024Review
- Insulin Delivery Technology for Treatment of Infants with Neonatal Diabetes Mellitus: A Systematic Review.Diabetes therapy : research, treatment and education of diabetes and related disorders · 2024Review
- Transient Neonatal Diabetes Mellitus with an Unknown Cause in a 1-Month-Old Infant: A Case Report.Healthcare (Basel, Switzerland) · 2024Article
- Case report: A case of Rabson-Mendenhall syndrome: long-term follow-up and therapeutic management with empagliflozin.Frontiers in genetics · 2024Article
Corrections and comments
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Authors and funding
35 authors at 20 institutions in 2 countries.
Funding
Abstract
contextIn the last decade the Sanger method of DNA sequencing has been replaced by next-generation sequencing (NGS). NGS is valuable in conditions characterized by high genetic heterogeneity such as neonatal diabetes mellitus (NDM).
objectiveTo compare results of genetic analysis of patients with NDM and congenital severe insulin resistance (c.SIR) identified in Italy in 2003-2012 (Sanger) vs 2013-2022 (NGS).
methodsWe reviewed clinical and genetic records of 104 cases with diabetes onset before 6 months of age (NDM + c.SIR) of the Italian dataset.
resultsFifty-five patients (50 NDM + 5 c.SIR) were identified during 2003-2012 and 49 (46 NDM + 3 c.SIR) in 2013-2022. Twenty-year incidence was 1:103 340 (NDM) and 1:1 240 082 (c.SIR) live births. Frequent NDM/c.SIR genetic defects (KCNJ11, INS, ABCC8, 6q24, INSR) were detected in 41 and 34 probands during 2003-2012 and 2013-2022, respectively. We identified a pathogenic variant in rare genes in a single proband (GATA4) (1/42 or 2.4%) during 2003-2012 and in 8 infants (RFX6, PDX1, GATA6, HNF1B, FOXP3, IL2RA, LRBA, BSCL2) during 2013-2022 (8/42 or 19%, P = .034 vs 2003-2012). Notably, among rare genes 5 were recessive. Swift and accurate genetic diagnosis led to appropriate treatment: patients with autoimmune NDM (FOXP3, IL2RA, LRBA) were subjected to bone marrow transplant; patients with pancreas agenesis/hypoplasia (RFX6, PDX1) were supplemented with pancreatic enzymes, and the individual with lipodystrophy caused by BSCL2 was started on metreleptin.
conclusionNGS substantially improved diagnosis and precision therapy of monogenic forms of neonatal diabetes and c.SIR in Italy.
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