hrp0089p2-p075 | Diabetes & Insulin P2 | ESPE2018

Type 5 Monogenic Diabetes: Reportof 7 Cases

Eduard Mogas , Rosa Pacheco , Diego Yeste , Ariadna Campos , Luis Castano , Maria Clemente

Introduction: Type 5 monogenic diabetes is an autosomal dominant disease due to a mutation in HNF1beta gene. This gene is expressed predominantly in kidney and pancreas, thus clinical manifestations are characterised by renal abnormalities and diabetes.Objectives: To review the clinical characteristics of patients who were diagnosed with type 5 monogenic diabetes in the Pediatric Endocrinology Unit of a tertiary referral hospital.<p class="a...

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...

hrp0089p2-p215 | GH &amp; IGFs P2 | ESPE2018

Systematic Prospective Study of Eye Funduscopy Before and After Starting Treatment with Growth Hormone in 290 Patients

Eduard Mogas , Nieves Martin , Diego Yeste , Luis Castano , Maria Clemente , Ariadna Campos , Antonio Carrascosa

Introduction: Idiopathic intracranial hypertension (IIH) is a rare entity in childhood. It is characterized by signs and symptoms of increased intracranial pressure with normal neurological examination (except for possible paresis of the sixth cranial nerve), cerebrospinal fluid study and neuroimaging. The association between HII and treatment with growth hormone (GH) was first described in 1993 by the Food and Drug Administration and it has later been demonstrated. Incidence ...

hrp0082p2-d3-504 | Perinatal and Neonatal Endocrinology | ESPE2014

Vitamin D Deficiency as the Primary Cause of Neonatal Hypocalcemia in a Tertiary Hospital

Campos-Martorell Ariadna , Narvaez Karla , Clemente Maria , Yeste Diego , Mogas Eduard , Gerones Laura , Carrascosa Antonio

Background: Hypocalcemia is a common metabolic disorder in the neonatal period and may involve life-threatening situations. The aim is to analyze the main causes of hypocalcemia and its management.Objective and hypotheses: The aim is to analyze the main causes of hypocalcemia and its management.Method: Retrospective descriptive study by reviewing reports of 75 patients diagnosed of neonatal hypocalcemia (total Ca <7.6 mg/dl and...

hrp0082p3-d1-885 | Perinatal and Neonatal Endocrinology | ESPE2014

Neonatal Seizures Neonatal due to Hypocalcemia Secondary to Maternal Vitamin D Deficiency

Campos-Martorell Ariadna , Narvaez Karla , Clemente Maria , Yeste Diego , Mogas Eduard , Gerones Laura , Carrascosa Antonio

Background: Vitamin D is an essential hormone in the homeostasis of calcium. Its main source is sun exposure. Changes in lifestyle and migratory movements have favored the reappearance of vitamin deficiency in our country.Method: We present three cases of newborn with hypocalcemic seizures, secondary to maternal vitamin D deficiency. Mother’s origin was North Africa.Results: Case 1: 7 days old male brought for several episodes...

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...

hrp0094p2-186 | Fat, metabolism and obesity | ESPE2021

Diagnostic accuracy of Tri-Ponderal mass index (kg/m3) for identifying glucose intolerance in obese children and adolescents.

Arciniegas Larry , Mogas Eduard , Tomasini Rosangela , Fabregas Ana , Clemente Maria , Yeste Diego ,

Introduction: The identification of obese patients with increased susceptibility and risk for glucose intolerance and type 2 diabetes requires an oral glucose tolerance test (OGTT). Reference values for Body mass index (BMI) and Tri-Ponderal mass index (TMI) according to age and sex of healthy children in Spain without malnutrition or obesity have recently been published (*). TMI values remain very uniform in both boys and girls from the age of 8 to 18 years, ...

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...

hrp0095p2-92 | Fat, Metabolism and Obesity | ESPE2022

Different profiles of lipoprotein particles associate various degree of cardiac involvement in adolescents with morbid obesity

Arciniegas Larry , M. Siurana José , Sabate-Rotes Anna , Amigó Núria , Martínez-Micaelo Neus , Riaza Lucia , Mogas Eduard , Rosés-Noguer Ferran , S. Ventura Paula , Yeste Diego

Introduction: Dyslipidemia secondary to obesity is a risk factor related to cardiovascular disease events, however a pathological conventional lipid profile (CLP) is infrequently found in obese children. The objective of our study is to evaluate the advanced lipoprotein profile (ALP) and its relationship with cardiac changes, metabolic syndrome and inflammatory markers in a population of morbidly obese adolescents with normal CLP and without type 2 diabetes me...