hrp0094p1-119 | Fat, Metabolism and Obesity B | ESPE2021

Diagnostic precision of the Tri-Ponderal Mass Index (kg/m3) to identify the metabolic risk phenotype in obese children and adolescents.

Arciniegas Larry , Tomasini Rosangela , Vega Elizabeth , Fabregas Ana , Clemente Maria , Yeste Diego ,

Introduction: The metabolically healthy obese phenotype (MHOF) defines obese patients who have preserved insulin sensitivity and who do not have metabolic complications: lower risk of cardiovascular disease and type 2 diabetes in adulthood. Recent studies indicate that TMI (kg/m3) estimates the percentage of body fat more accurately than the BMI and it has been proposed to substitute the use of the BMI z-score values by those of the TMI. TMI values ...

hrp0095p2-55 | Diabetes and Insulin | ESPE2022

A case of de novo ABCC8 gene mutation resulting in Transient Neonatal Diabetes

Clemente Marisa Ferreira

Neonatal diabetes is characterised by hyperglycaemia in the first 6 months of life. Transient neonatal diabetes (TND) is differentiated from permanent neonatal diabetes by its remission in infancy/early childhood, with possible relapse during adolescence in 50% of the cases. Incidence of neonatal diabetes is thought to range from 1:90,000 to 1:160,000. A gene mutation affecting pancreatic beta cells synthesis/secretion of insulin is present in more than 80% of the cases. Overe...

hrp0084p3-703 | Diabetes | ESPE2015

A 1-year Follow-up Study to Evaluate Efficacy and Compliance of Continuous Glucose Monitoring in Children with Type 1 Diabetes Mellitus

Soni Astha , Clemente Marisa , Ng Sze May

Background: Self monitoring of blood glucose (SMBG) is an important part of diabetes management. Continuous glucose monitoring system (CGMS) provides the real time measurements of users’ glucose levels. The NICE guideline recommends use of CGMS if there is persistent hypoglycaemia unawareness or repeated hypoglycaemia or hyperglycaemia. In our paediatric diabetes clinic within a large DGH, we have a cohort of 12 children who were funded for the CGM use for a minimum of 1 ...

hrp0097p1-195 | Thyroid | ESPE2023

A rare case of thyroid dyshormonogenesis with high urine iodine excretion

Gunarathna Leslie , Clemente Marisa , Weerasinghe Kamal

Background: Variety of defective thyroid hormone biosynthesis accounts for 15% of congenital hypothyroidism. Children with IYD gene (formerly DEHALI) mutation, which encodes thyroidal enzyme iodotyrosine deiodinase, cannot recycle iodine in thyroid gland. This results in urinary loss of iodine and hypothyroidism. The condition may be missed by neonatal screening programs.Case description: A male baby was born of non-cons...

hrp0097p2-113 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

The complexity of Hyperinsulinism in newborns

Clemente Marisa , Crawley Louise , Weerasinghe Kamal

Background: Hyperinsulinism represents a group of clinically, genetically and morphologically heterogeneous disorders characterised by β-cell dysfunction in glucose homeostasis leading to excessive insulin secretion with profound and recurrent hypoglycaemia. In most countries it occurs in approximately 1/25,000 to 1/50,000 births. Mutations in at least 14 genes have been reported to cause congenital hyperinsulinism. In nearly half of the cases, cause rema...

hrp0092p1-314 | Diabetes and Insulin (2) | ESPE2019

Comparison Between Patients and Families who Routinely Download Data and Those who do Not Download Data at Home in The Management of Type 1 Diabetes

Ng Sze May , Sultana Perveen , Clemente Marisa , Apperley Louise

Background: In type 1 diabetes (T1D), optimal glycaemic control requires intensive self-management to reduce the risk of complications. While routine downloading and review of blood glucose data is part of clinical practice of healthcare providers in an outpatient setting, patients and families are also educated, advised and encouraged to regularly download and review blood glucose data at home in order to make adjustments to insulin dosing for carbohydrate in...

hrp0089p3-p105 | Diabetes & Insulin P3 | ESPE2018

Monogenic Diabetes Cause by Mutation of the Gene HNF–1A

Narvaez Juan Manuel , Leon Maria Clemente , Oriol Josep

Introduction: The MODY diabetes (Maturity Onset Diabetes of the Young) belongs to monogenic alterations group, the mutation of the gene HNF-1α is the most common and present an autosomal dominant inheritance that causes dysfunction of the Beta pancreatic cell and alteration in the reabsorption of glucose to renal level, with age of variable presentations, it often leads to a misdiagnosis as type 1 diabetes mellitus.Description of the clinical case: ...

hrp0095p1-15 | Adrenals and HPA Axis | ESPE2022

Growth from Birth to Adult Height in Patients with Classical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: A Collaborative Study

Clemente María , Teresa Sandino María , Escribano Arancha , Berrade Sara , Campos Ariadna , Yeste Diego

Objective: To evaluate growth in patients with classical CAH.Patients and methods: Retrospective, longitudinal and multicentric study of patients with classical CAH due to 21-hydroxylase deficiency who had achieved adult height(AH).Excluded: boys with simple virilising forms(SV)>1-year at diagnosis. Normative Control Group:Millennials Longitudinal Growth Study(2018). According t...

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...

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...