Searchable abstracts of presentations at key conferences in endocrinology

ea0099p183 | Late-Breaking | ECE2024

Clinical spectrum associated with variants in the ins gene in patients with suspected monogenic diabetes

Gomes Porras Mariana , Vallejo Mora Rosario , Soledad Ruiz De Adana Navas Maria , Campos Barros Angel

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 ...

ea0099p386 | Late-Breaking | ECE2024

Molecular genetics of unresolved mody (Mody-X)

Gomes Porras Mariana , Soledad Ruiz de Adana Navas Maria , Fontalba Romero Maria , Lago Sampedro Ana , Maldonado Araque Cristina , Campos Barros Angel

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...

ea0070aep392 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020

Freestyle libre flash glucose monitoring system in pregnant woman affected by type 1 diabetes: Our experience

Bautista Recio Carmen , Gomez Perea Ana , Domínguez López Marta , González Romero Stella , Colomo Rodriguez Natalia , Vallejo Mora Rosario , Soledad Ruiz de Adana Navas Maria , Olveira Fuster Gabriel

Objective: Prospective observational study in a group of pregnant patients affected by type 1 diabetes (T1DM), that are monitored by the Endocrinology and Pregnancy Unit.Material and Methods: Weevaluated 12 pregnant patients with T1DM in which a FreeStyle Libre Flash Glucose Monitoring Systemwas installed, in addition to their capillary glucose self-control (SMBG), over the past year 2019. Time above range (TAR), time in range (TIR) and time below range ...