Enfoque clínico, diagnóstico y terapéutico de la diabetes de inicio en la madurez del joven (MODY): una revisión narrativa

Cruz Calderón, S., Díaz Posada, N. A. ., Saldarriaga Betancur, S., & Ramírez Rincón, A. (2025). Clinical, diagnostic, and therapeutic approach to maturity-onset diabetes of the young (MODY): A narrative review. Revista Colombiana De Endocrinología, Diabetes &Amp; Metabolismo, 12(2). https://doi.org/10.53853/encr.12.2.910

Abstract

Background: Maturity-onset diabetes of the young (MODY) is an uncommon form of monogenic diabetes, characterized by genetic mutations that affect pancreatic beta-cell function.

Purpose: To describe the clinical, diagnostic, and therapeutic approach to MODY, highlighting its phenotypic features, current diagnostic tools, therapeutic options, and its role in precision medicine.

Methodology: A narrative review of the scientific literature on MODY was conducted. Original articles, narrative reviews, case reports, and clinical guidelines published in English and Spanish up to September 2024 were included.

Results: MODY is a heterogeneous condition classified into subtypes according to specific genetic mutations. Its diagnosis represents a clinical challenge, with up to 80.0% of cases misdiagnosed as type 1 or type 2 diabetes due to diagnostic complexity. Identification of the phenotypic features of each subtype, along with the appropriate use and interpretation of diagnostic probability calculators, is essential to reduce misclassification and to identify candidates for genetic testing. A diagnostic algorithm is proposed as a starting point for the systematic implementation of MODY probability assessment in a referral center.

Conclusions: The diagnosis of MODY represents a clinical challenge, in which proper phenotypic and genetic characterization is essential to advance toward precision medicine.

https://doi.org/10.53853/encr.12.2.910

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Clinical, diagnostic, and therapeutic approach to maturity-onset diabetes of the young (MODY): A narrative review

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