hrp0089p3-p184 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Mutation in UCP2 Gene: A Rare Cause of Hyperinsulinemic Hypoglycaemia Syndrome in a Small-for-Gestational Age Newborn

Clemente Maria , Yesquen Pamela , Campos Ariadna , Mogas Eduard , Fernandez Monica , Yeste Diego

Hyperinsulinism is a common cause of severe and persistent hypoglycaemia during the neonatal period. Eleven genes have been identified that lead to unregulated insulin secretion and hyperinsulinemic hypoglycaemia (HH). Inactivating mutations in UCP2 gene have been described in a very small number of patients with HH. UCP2 protein is an inner mitochondrial carrier protein and its loss of function causes enhanced glucose oxidation and increased intracellular ATP synthes...

hrp0089p3-p185 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Hyperinsulinemic Hypoglycaemia Syndrome in Small-for-Gestational Age Newborns: Clinical Characteristics and Genetic Study

Yesquen Pamela , Clemente Maria , Campos Ariadna , Fernandez Monica , Castillo Felix , Yeste Diego

Hyperinsulinemic hypoglycaemia (HH) is a common cause of severe and persistent hypoglycaemia during the neonatal period. Risk factors for neonatal transient hyperinsulinism are small-for-gestational age (SGA), perinatal asphyxia and maternal diabetes mellitus. This state of hyperinsulinism in SGA newborns could persist from weeks to years, resulting in an important comorbidity; its pathogenesis remains unknown.Objective: To describe the clinical-genetic ...

hrp0094p2-129 | Diabetes and insulin | ESPE2021

Evaluation of continuous glucose monitoring for the diagnosis of cystic fibrosis related diabetes (CFRD). A prospective and longitudinal study

Yesquen Pamela , Campos Ariadna , Mogas Eduard , Gartner Silvia , Yeste Diego , Clemente Maria ,

Introduction: Continuous-glucose monitoring (CGM) is becoming a useful tool to evaluate glucose profiles in real-life conditions and to detect glucose abnormalities undetected by OGTT in CF patients.Objectives: • Evaluation of OGTT and CGM results longitudinally • Evaluation of BMI z-score and %FEV1 changes in relation to OGTT and CGM results. • Analysis of 6 proposed criteria to classify glucose abnormali...

hrp0095p1-233 | Diabetes and Insulin | ESPE2022

Effects of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)-Modulating Therapy on Glucose Metabolism in Cystic Fibrosis Patients

Yesquen Pamela , Campos Ariadna , Mogas Eduard , Yeste Diego , Gartner Silvia , Clemente María

Introduction: CFTR-modulating therapy aims to restore CFTR function. It improves lung function and quality of life in CF patients however, its effects on glucose metabolism are not yet well defined.Methodology: Retrospective and longitudinal study.Inclusion criteria: patients with CF genetic diagnosis ≥10 years old on modulator therapy (ivacaftor + lumacaftor or ivacaftor + teza...

hrp0092p2-164 | GH and IGFs | ESPE2019

Brain Magnetic Resonance Imaging in Children with Isolated Growth Hormone Deficiency and Idiopathic Short Stature Diagnoses

Yesquen Pamela , Clemente María , Campos Ariadna , Mogas Eduard , Vázquez Élida , Carrascosa Antonio , Yeste Diego

Introduction: Diagnosis of growth hormone deficiency (GHD) and idiopathic short stature (ISS) is not straightforward. Nowadays growth hormone (GH) stimulation tests play a key role in the diagnosis but they are controversial due to the lack of normative data, poor reproducibility and poor disease concordance.The magnetic resonance imaging (MRI) is also a tool in the study of patients with short stature. Structural alterations of the hypo...