Enhancing the Diagnostic Yield of Monogenic Diabetes in Unresolved Cases With Early-Onset Hyperglycemia

    October 2025 in “ Communications Medicine ”
    Pedro Campos Franco, A. Santomauro, Aline Dantas Costa‐Riquetto, Lucas Santos de Santana, Larissa Garcia Gomes, Alexander A.L. Jorge, Milena Gurgel Teles
    TLDR Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
    The study highlights that using a combined approach of genotypic and phenotypic reanalysis significantly enhances the diagnostic accuracy for individuals with suspected monogenic diabetes, particularly in cases of early-onset hyperglycemia. This strategy allows for a more precise molecular diagnosis, which is crucial for tailoring appropriate treatment plans for affected individuals. The findings suggest that incorporating both genetic and phenotypic data can resolve previously unresolved cases, thereby improving patient outcomes.
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