hrp0084p2-208 | Bone | ESPE2015

Bone Mineral Density in Children and Adolescents with Vertical HIV Infection

Vargas Deisi Maria , Prust Daniela Oliveira , Galvao Jose Carlos

Background: Chronic diseases are the main causes of bone mass reduction in childhood and adolescence. Different aspects related to the process of bone acquisition and maintenance may be affected. Studies had point out the presence of bone mass reduction in children and adolescents with HIV infection with association to antiretroviral use, chronological age (CA), weight and serum CD4 T-cell counts. However, others do not.Objective: To evaluate bone minera...

hrp0084p2-532 | Puberty | ESPE2015

Determination of Final Height in Girls with Precocious Puberty. Which is the Most Accurate Method?

Quiroga Daniela , Pinochet Constanza , Cerda Jaime , Cattani Andreina , Garcia Hernan

Background: Central precocious puberty (CPP) is a common condition in girls and has been associated with deterioration of final height (FH). Height prognosis (HP) is critical for the decision of treatment in CPP. There are several methods for predicting FH in CPP but none is completely reliable. Most methods consider bone age (BA), which is very imprecise, but there is no consensus on which method is the best to estimate FH.Objective: To compare the accu...

hrp0084p3-1099 | Pituitary | ESPE2015

Isolated GH Deficiency (IGHD) Associated with 7q11.23 Duplication Syndrome: a Case Report

Aroyo Ani , Stoeva Iva , Stancheva Gergana , Avdshieva Daniela , Kaneva Radka

Background: Congenital pituitary hormone deficiency is etiologically heterogeneous and occurs in 1:4000 live births. Of those, isolated GH deficiency (IGHD) is the most common, followed by combined pituitary hormone deficiency with or without extrapituitary anomalies.Objective and hypotheses: Description of a patient with IGHD, associated with multiple additional organ anomalies.Method: Case report, Sequencing of HESX1, SOX2</e...

hrp0094p2-303 | Growth and syndromes (to include Turner syndrome) | ESPE2021

A literature review of the potency and selectivity of FGFR-selective tyrosine kinase inhibitors, such as infigratinib, in the potential treatment of achondroplasia

Dobscha Katherine , Wei Ge , Dambkowski Carl , Rogoff Daniela ,

Background: Germline mutations in fibroblast growth factor receptor (FGFR) genes 1–3 can cause skeletal dysplasias such as achondroplasia (ACH), which is caused primarily by a G380R substitution in FGFR3. Infigratinib (BGJ398), a potent and selective FGFR1–3 tyrosine kinase inhibitor (TKI), demonstrated preclinical efficacy at low doses in an ACH mouse model. The objective of this analysis is to evaluate dose dependency and toxicity...

hrp0097p1-69 | Fat, Metabolism and Obesity | ESPE2023

Difference of nafld frequency between younger and older children with obesity

Stanikova Daniela , Vitariusova Eva , Kosnacova Jana , Cierna Iveta , Stanik Juraj

Background: Non-alcoholic Fatty Liver Disease (NAFLD) is a frequent complication of obesity in both adults and children and there is an alarming increase in prevalence of both. Studying of risk factors for NAFLD in children and adolescents might help to select vulnerable groups to start an early intervention.Objectives: The aim of our study was to detect the prevalence of NAFLD in pediatric obese patients (0-18.9 years, ...

hrp0097p1-469 | Fat, Metabolism and Obesity | ESPE2023

Compound heterozygous SLC5A2-Mutation leading to familial renal glucosuria in an 11-year-old boy

Habacht Daniela , Zeitlhofer Petra , Hammer Karin , Haas Oskar , Riedl Stefan

Background: The SGLT2 (Sodium-Glucose Cotransporter 2) protein is responsible for the majority of glucose reabsorption in the proximal tubule. Mutations in SLC5A2, encoding SGLT2, have been first described in 2002, leading to familial renal glucosuria (FRG). Herein we describe the clinical course of an 11-year-old boy in whom a compound heterozygous SLC5A2-mutation was detected, who presented with glucosuria and vomiting with a suspected diagnosis of diabetes....

hrp0097p1-142 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Stimulated copeptin based diagnosis of central diabetes insipidus in children and adolescents

Gippert Sebastian , Choukair Daniela , Brune Maik , Bettendorf Markus

Introduction: Diagnosis of central diabetes insipidus (CDI) remains challenging. Water deprivation test and hypertonic saline infusion, as established diagnostic tests, are mentally and physically demanding for patients. Copeptin response to arginine-stimulation and insulin tolerance test (ITT) has been shown to be a putative parameter in the diagnosis of CDI in adults, but data are lacking for children and adolescents.Methods:</...

hrp0098p1-3 | Adrenals and HPA Axis 1 | ESPE2024

Insulin-induced copeptin response in children and adolescents to diagnose arginine vasopressin deficiency* (*partly presented at the 61st Annual ESPE Meeting 2023)

Gippert Sebastian , Brune Maik , Choukair Daniela , Bettendorf Markus

Introduction: The diagnosis of arginine vasopressin deficiency (AVD, formerly central diabetes insipidus) remains a challenge. Timely and accurate differentiation between AVD and primary polydipsia (PP) is pivotal for effective management. In recent years, stimulated copeptin has emerged as a promising tool to diagnose AVD.Methods: In this single centre retrospective study, we identified paediatric patients with suspecte...

hrp0089p2-p326 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Pituitary Adenomas in Children and Adolescents: A Retrospective Single-Centre Analysis

Breil Thomas , Lorz Catherine , Choukair Daniela , Mittnacht Janna , Inta Ioana , Klose Daniela , Jesser Jessica , Schulze Egbert , Bettendorf Markus

Background: Paediatric pituitary adenomas are rare and mostly benign disorders which may secrete pituitary hormones. Prolactinomas account for half of all pituitary adenomas (PROLA), followed by non-secreting adenomas (20–40%; incidentalomas), adrenocorticotropic-hormone secreting adenomas (10–30%; ACTHA) and growth-hormone-secreting adenomas (5–15%; GHA).Methods: In this single-centre retrospective analysis clinical, biochemical and radio...

hrp0086p1-p99 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Automated Greulich-Pyle Bone Age Determinations in Children with Chronic Endocrine Diseases

Choukair Daniela , Huckmann Annette , Mittnacht Janna , Inta Ioana , Klose Daniela , Schenk Jens Peter , Bettendorf Markus , Thodberg Hans Henrik

Background: Prediction of adult height is a standard procedure in pediatric endocrinology, but it is associated with considerable interrater variability.Objective and hypotheses: To compare the new adult height prediction (PAH) method by automated bone age determination (BoneXpert™) with the conventional PAH method by Bayley Pinneau (BP) based on bone age determination according to Greulich & Pyle. Furthermore, to assess measures of bone health ...