hrp0095p1-439 | Diabetes and Insulin | ESPE2022

Deciphering Monogenic Diabetes Mellitus in Spanish Pediatric Patients: A Cross-Sectional Study

Gomes Porras Mariana , Coral Barreda Bonis Ana , Salamanca Fresno Luis , González Casado Isabel , Campos Barros Ángel

Background and aims: The introduction of next-generation sequencing (NGS) as an essential tool for the routine molecular diagnosis of DM has highlighted the under-diagnosis of monogenic diabetes mellitus (MonDM). Accurate molecular diagnosis of the MonDM subtype has important implications for prognosis and choice of treatment, family counseling and health management, enabling precision medicine. The main objective was to clinically and molecularly characterize...

hrp0082fc4.1 | Growth | ESPE2014

Heterozygous IGF1R Mutations Represent a Frequent Finding in Patients with Pre- and/or Postnatal Proportional Undergrowth and Low, Normal or Supranormal IGF1

Campos-Barros Angel , Gomez-Nunez Ana , Gonzalez-Casado Isabel , Salamanca-Fresno Luis , Garcia-Minaur Sixto , Ros-Perez Purificacion , Borras-Perez Victoria , Audi Laura , Rosell-Andreo Jordi , de Sotto-Esteban Diego , Garcia-Cuartero Beatriz , Gonzalez-Vergaz Amparo , Cruz-Rojo Jaime , Garzon Lucia , Gallego-Gomez Elena

Background: IGF1 resistance syndrome (IGF1RS) is characterized by intrauterine and postnatal growth deficit with normal or supranormal IGF1 levels. Additional features may include intellectual deficit, microcephaly and dysmorphisms. IGF1RS may be caused by genomic or genetic defects affecting the IGF1R locus (15q26.3).Objective and hypotheses: To investigate the frequency of IGF1R mutations in a cohort of patients with pre- and/or postn...

hrp0095rfc8.1 | Diabetes and Insulin | ESPE2022

Clinical Spectrum of HNF4A-mody (Mody1): From Neonatal Hyperinsulinism to Diabetes in Adults

Salamanca Fresno Luis , Itza Martín Nerea , Gomes Porras Mariana , Guerrero Fernández Julio , Ramírez Fernández Joaquin , Abad López Ainhoa , Solís López Mariano , Rodríguez Jiménez Carmen , Lía Nattero Chavez María , Alvarez Escolá Cristina , González Casado Isabel , Campos Barros Ángel

Background and Aims: HNF4A-MODY clinical expression is broad, ranging from hypoglycemic hyperinsulinism in the neonatal period and early childhood to hyperglycemia and diabetes, as insulin secretion progressively decreases in adult patients. The main objective was to clinically and molecularly characterize patients with glycemic alterations, negative autoimmunity and confirmed molecular diagnosis of HNF4A-MODY.Materials and Metho...