The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022
Authors' conclusion
NGS substantially improved diagnosis and precision therapy of monogenic forms of neonatal diabetes and c.SIR in Italy.
Study context
- Population
- Patients with diabetes onset before 6 months of age (neonatal diabetes mellitus, neonatal diabetes mellitus (NDM), or congenital severe insulin resistance, c.SIR), Italian datasetNDM + c.SIR
- Participants
- 104 patients
- Exposure
- Next-generation sequencing (NGS) era vs Sanger era
- 2013-2022 (NGS)n = 49
- 2003-2012 (Sanger)n = 55reference
- Outcome
- Results of genetic analysis (pathogenic variants detected)
Methodological detailsnationwide registry review, comparison of two periods (Sanger 2003-2012 vs NGS 2013-2022)
- Nationwide registry review
- Comparison of two periods (Sanger 2003-2012 vs NGS 2013-2022)
Main finding
As reported in the abstract
Pathogenic variant in rare genes
P = 0.034 vs 2003-2012
Observational data: associations, not effects.
Further findings
Events
| Outcome | 2013-2022 (NGS) | 2003-2012 (Sanger) |
|---|---|---|
| Frequent NDM/c.SIR genetic defects (KCNJ11, INS, ABCC8, 6q24, INSR) detected in probands | 34 | 41 |
Twenty-year incidence per live births · 2003-2022
- NDM incidence
- 1:103 340 live births
- c.SIR incidence
- 1:1 240 082 live births
Genetically guided treatment
- Autoimmune NDM (FOXP3, IL2RA, LRBA): bone marrow transplant; pancreas agenesis/hypoplasia (RFX6, PDX1): pancreatic enzymes; lipodystrophy (BSCL2): metreleptin
Original publication
The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022. J Clin Endocrinol Metab. Published 26 February 2024. doi:10.
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