hrp0084p2-530 | Puberty | ESPE2015

Nephrogenic Diabetes Insipidus with Partial Response to Ddavp Caused by a Novel AVPR2 Splice Site Mutation

Schernthaner-Reiter Marie Helene , Adams David , Nilsson Ola , Trivellin Giampaolo , Ramnitz Mary Scott , Raygada Margarita , Golas Gretchen , Faucz Fabio R. , Dileepan Kavitha , Lodish Maya B. , Lee Paul R. , Markello Thomas C. , Tifft Cynthia J. , Gahl William A. , Stratakis Constantine A.

Background: Congenital diabetes insipidus (DI) can be due to mutations in the arginine vasopressin (AVP) gene (familial neurohypophyseal DI), the AVP receptor type 2 (AVPR2) or aquaporin 2 (AQP2) genes (congenital nephrogenic DI, NDI). The clinical manifestation of congenital NDI, especially the response to AVP, can vary greatly depending on the functional effect of the AVPR2 mutation. Here we present two male siblings with NDI and partial response to ddAVP.<p class="abste...

hrp0094p1-138 | Growth Hormone and IGFs A | ESPE2021

Safety and effectiveness of pediatric growth hormone therapy: Results from the full cohort in KIGS

Maghnie Mohamad , Ranke Michael B , Geffner Mitchell E , Vlachopapadopoulou Elpis , Dorr Helmuth G , Wikland Kerstin Albertsson , Ibanez Lourdes , Carlsson Martin , Cutfield Wayne , Rooman Raoul , Gomez Roy , Wajnrajch Michael P , Linglart Agnes , Stawerska Renata , Polak Michel , Grimberg Adda ,

Objective: KIGS (Pfizer International Growth Survey) was a large, international database of pediatric patients who received recombinant human growth hormone (rhGH) as prescribed in real-world clinical settings. This analysis evaluated the long-term safety and efficacy data from all participants until KIGS close in 2012.Methods: Children with growth disorders and treated with rhGH (Genotropin® [somatropin]...

hrp0097p1-60 | Fat, Metabolism and Obesity | ESPE2023

Clinical usefulness of bioimpedance analysis in children and adolescents with severe obesity. Preliminary results of the Polish-German study project on severe early-onset obesity.

Kostrzeba Ewa , Bik-Multanowski Mirosław , Brandt Stephanie , Flehmig Bertram , Małecka-Tendera Ewa , Mazur Artur , B. Ranke Michael , Wabitsch Martin , Wójcik Małgorzata , Zachurzok Agnieszka , Petriczko Elżbieta

Aim: Childhood obesity has become extremely important issue worldwide. The aim of this study was to determine associations between data from bioimpedance analysis with the antrophometric measurements and biochemical results obtained from children and adolescents with severe obesity.Study population and Methods: Study group consisted of 128 children recruited in four regional reference centers including 70 girls (54.7%) a...

hrp0097p1-464 | Fat, Metabolism and Obesity | ESPE2023

Occurrence of cardiovascular risk factors in Polish children and adolescents with severe obesity. Preliminary results of the Polish-German study project on severe early-onset obesity

Stępniewska Anna , Szczudlik Ewa , Bik-Multanowski Mirosław , Brandt Stephanie , Flehmig Bertram , Małecka-Tendera Ewa , Mazur Artur , Petriczko Elżbieta , B. Ranke Michael , Zachurzok Agnieszka , Wójcik Małgorzata

It is estimated that 1-5% of children and adolescents in Europe suffer from severe obesity (corresponding to an adult BMI > 40 kg/m2). However, in risk stratification, the occurrence of metabolic complications is more important than BMI itself. The study aimed to assess the occurrence of cardiovascular risk factors in a cohort of children and adolescents with severe obesity.Patients and Methods: The analysis included 140 patients (75 ...

hrp0097p1-474 | Fat, Metabolism and Obesity | ESPE2023

Identifying MAFLD and its metabolic risk factors in Polish children and adolescents with severe obesity. Preliminary results of the Polish-German study project on severe early-onset obesity.

Mierzwa Magdalena , Malczyk Żaneta , Bik-Multanowski Mirosław , Brandt Stephanie , Flehmig Bertram , Małecka- Tendera Ewa , Mazur Artur , Petriczko Elżbieta , B. Ranke Michael , Wabitsch Martin , Wójcik Małgorzata , Zachurzok

Agnieszka

Background: Fatty liver disease in children and adolescents is the most common cause of chronic liver disease in many countries. Criteria for a diagnosis of pediatric metabolic associated fatty liver disease (MAFLD) are based on hepatic steatosis in ultrasound, blood biomarkers or liver biopsy in association with one of the three criteria: excess adiposity (overweight, obesity or abdominal obesity), prediabetes or type 2 diabetes, or evidence of metabolic dysr...

hrp0098p2-108 | Fat, Metabolism and Obesity | ESPE2024

Prevalence and risk factors of Metabolic Associated Fatty Liver Disease (MAFLD) in polish children and adolescents with severe obesity.

Kostrzeba Ewa , Bik-Multanowski Mirosław , Brandt Stephanie , Flehmig Bertram , Małecka-Tendera Ewa , Mazur Artur , B. Ranke Michael , Wabitsch Martin , Wójcik Małgorzata , Zachurzok Agnieszka , Petriczko Elżbieta

Aims: The aimof this study was to investigate the prevalence and risk factors of MAFLD in severely obese polish children and adolescents.Patients and Methods: Data were collected in four Polish medical centers as a part of the project "Prevalence of monogenic obesity among Polish children and adolescents with severe obesity" (funded by National Science Center, Poland (2021/41/B/NZ5/01676)). Inclusion criteria f...

hrp0094p2-224 | Fat, metabolism and obesity | ESPE2021

Inflammation associated to body composition in European prepubertal children: Results from the IDEFICS study

Argente Pilar , Esther Gonzalez , Intemann Timm , Moreno Luis , Molnar Denes , Kaprio Jaakko , Russo Paola ,

Background: Obesity is characterised by excessive fat accumulation coursing with a chronic mild inflammatory state, with adipose tissue (AT) being the main site of increased systemic cytokine production. Increased adiposity early in life is the main risk factor for cardiometabolic disorders later in life, with the abnormal accumulation of lipids in AT leading to the production of pro-inflammatory cytokines. Inflammatory process that involves metabolic and card...

hrp0095p1-200 | Thyroid | ESPE2022

Severe and Non Severe Forms of Autoimmune Hypothyroidism in Childhood: A Retrospective Analysis of 256 Cases

Maltoni Giulio , Vincenzi Gaia , Scozzarella Andrea , Tarantola Giulia , Cristina Vigone Maria , Cassio Alessandra

Introduction: Hashimoto’s thyroiditis (HT) is one of the most common autoimmune diseases in childhood. Despite its frequency, there are still controversies concerning the spontaneous evolution and presentation in childhood. Aim and methods: this is a retrospective study aiming to evaluate clinical and hormonal features at diagnosis and auxological parameters after 3 years in subjects with Severe Autoimmune Hypothyroidism (SAH). We defined severe hypothyr...

hrp0097p1-186 | Thyroid | ESPE2023

Comparison of clinical features, therapy, and disease evolution in a population of children and adolescents with Graves' disease and Type 1 Diabetes compared to Graves' disease alone.

Bernardini Luca , Maltoni Giulio , Cristina Vigone Maria , Franceschi Roberto , Cardinale Giuliana , Mameli Chiara , Piscopo Alessia , Roppolo Rosalia , Savastio Silvia , Ortolani Federica , Randazzo Emioli , Giulia Lambertini Anna , Cassio Alessandra

Introduction: About 25% of children and adolescents with Type 1 Diabetes (T1D) have one or more associated autoimmune conditions. Although Graves' disease (GD) rarely occurs, considering the potential severity of manifestations, an early diagnosis and appropriate treatment are essential. The first line treatment is methimazole, whose use is not free from side effects; therefore, it is important to start with the most appropriate dosage.<p class="abste...

hrp0095p1-271 | Fat, Metabolism and Obesity | ESPE2022

Serum Osteopontin, NGAL and Sclerostin concentrations in children and adolescents with overweight and obesity

Karampatsou Sofia-Iliada , Paltoglou George , Genitsaridi Sofia-Maria , Kassari Penio , Charmandari Evangelia

Background: Obesity in childhood and adolescence represents a major health problem and is associated with significant morbidity and mortality in adult life. Osteopontin, NGAL and Sclerostin are bone biomarkers, however, little is known about their role in obesity.Objective and Hypothesis: The aim of our study was to determine the concentrations of Osteopontin, NGAL and Sclerostin in children and adolescents with overweig...