Precision Diagnostics for Monogenic Diabetes in Children
DOI:
https://doi.org/10.69734/1e8v6h36Keywords:
Diabetes mellitus type 1, Maturity-onset diabetes of the young , Neonatal diabetes mellitus, Mitochondrial diabetes, Wolfram syndrome, lipodystrophy, genetic testing, insulinAbstract
Monogenic diabetes, caused by a single-gene defect, accounts for roughly 1–5% of pediatric diabetes cases. Although relatively uncommon, correct identification of these subtypes is critical, as accurate classification can markedly influence both treatment and prognosis. However, distinguishing monogenic forms from type 1 (T1D) or type 2 diabetes (T2D) remains challenging due to overlapping features, such as early onset and variable insulin requirements. Many children with monogenic diabetes are misdiagnosed and, consequently, may not receive optimal therapy. Advances in sequencing technologies, combined with growing knowledge of the underlying genetic causes, now enable earlier, more precise diagnoses and offer opportunities to tailor therapy—often avoiding insulin in favor of targeted interventions. In this review, we summarize key categories of monogenic diabetes, including maturity-onset diabetes of the young (MODY), neonatal diabetes mellitus (NDM), and syndromic forms and outline current recommended diagnostic workflows and genetic testing strategies. Ultimately, we aim to provide clinicians with a clear, actionable framework for recognizing and managing these significant but often underrecognized forms of pediatric diabetes.
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