Endocrine Abstracts

Background and aims: INSmutations can cause INS-MODy and have been described more frequently in cases of neonatal diabetes mellitus. The reported phenotypic expression of INS-MODy is quite variable.Objective: To clinically, biochemically and molecularly characterize INS-MODy patients in two Spanish tertiary level hospitals during the period 2009-2023.Methods: Cross-sectional study that included 121 pediatric patients with ...

Introduction and Objectives: Although Next Generation Sequencing (NGS) technologies have significantly improved the molecular diagnosis of MODy, there is still a high percentage of cases in which the clinical suspicion remains without confirmatory molecular diagnosis. The main objective was to identify new candidate genes for MODy, by means of targeted NGS of a cohort of adult patients with clinically suspected MODy, in whom variants in the 14 known MODy genes implicated in it...