hrp0095rfc3.5 | Early Life and Multisystem Endocrinology | ESPE2022

Chronotropic Insufficiency impairs Cardiorespiratory Fitness in Boys and Adolescents with Klinefelter Syndrome

Spiekermann Julia , Höppner Jakob , Sinningen Kathrin , Hanusch Beatrice , Brinkmann Folke , Schündeln Michael M. , Kleber Michaela , Kiewert Cordula , Grasemann Corinna

Background: Klinefelter syndrome (KS) is associated with an increased metabolic and cardiovascular risk profile1,2 and a metabolic syndrome is evident at a prepubertal age in 10% of the affected boys. Boys with KS tend to avoid competitive sports and describe themselves as ‘not good at sports’. Cardiopulmonary fitness in adults with KS has been found to be compromised by chronotropic insufficiency (CI) and a reduced maximal oxygen uptake...

hrp0094p2-176 | Fat, metabolism and obesity | ESPE2021

Exploring Urinary Bile Acids as Potential Markers of Metabolism: Reference Values in Children by Targeted LC-MS/MS

Schauermann Marcel , Wang Rong , Hartmann Michaela F. , Remer Thomas , Hua Yifan , Shmoish Michael , Bereket Abdullah , Wasniewska Malgorzata , Hochberg Ze’ev , Gawlik Aneta , Wudy Stefan A. ,

Bile acids (BA) are C24 steroids synthesized from cholesterol in liver. Originally, they were mainly considered to function as emulsifiers supporting resorption of lipophilic food compounds and excretion of metabolic products. Recently, their additional biological and endocrine functions in the regulation of metabolism have aroused interest of researchers. In contrast to BA in blood, it is surprising that hardly any data exist on BA in the most accessible human biof...

hrp0095p1-283 | Fat, Metabolism and Obesity | ESPE2022

Single Nucleotide Polymorphisms (SNPs) Profile as Predictive Markers of Lifestyle Modification Outcomes in Pediatric Obesity Treatment

Gawlik Aneta , Sobalska-Kwapis Marta , Antosz Aleksandra , Strapagiel Dominik , Seweryn Michal , Shmoish Michael , Bereket Abdullah , Wasniewska Malgorzata , Kırkgoz Tarık , Turan Serap , Guran Tulay , Aversa Tomasso , Corica Domenico , A. Wudy Stefan , F. Hartmann Michaela , Hochberg Ze'ev

Context: The response to lifestyle modification (LSM) in children with obesity is variable and difficult to predict.Aim: A systematic search for identifying common single nucleotide polymorphisms (SNPs) to predict positive outcomes of LSM in pediatric obesity management, defined as decrease in BMI z-score (based on IOTF).Patients/Methods: Out of 240 children with obesity (BMI>97...

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]...

hrp0092fc7.6 | Diabetes and Insulin Session 2 | ESPE2019

2017 American Academy of Pediatrics Clinical Practice Guideline: Impact on Prevalence of Arterial Hypertension in Children and Adolescents with Type 1 Diabetes mellitus

Dost Axel , Bechtold Susanne , Fink Katharina , Bonfig Walter , Wiemann Dagobert , Kapellen Thomas Michael , Witsch Michael , Schwab Karl Otfried , Holl Reinhard Walter

Background: In 2017 the American Academy of Pediatrics has introduced a new guideline (AAP 2017) to diagnose arterial hypertension in children, as the blood pressure thresholds for adults had been lowered before. There is a controversy about these new reference levels as other societies have not followed these recommendations. We studied the impact of the new AAP 2017 guideline on prevalence of arterial hypertension (HTN) in children with Type 1 diabetes melli...

hrp0089rfc10.3 | Late Breaking | ESPE2018

Developmental Regulation of Obestatin and Adropin in Prader-Willi Syndrome and Non-Syndromic Obesity: Associations with Weight, BMI-z, HOMA-IR, and Lipid Profile

Orsso Camila E , Butler Andrew A , Muehlbauer Michael J , Cui Huaxia N , Rubin Daniela A , Pakseresht Mohammadreza , Butler Merlin G , Prado Carla M , Freemark Michael , Haqq Andrea M

Background: The peptides obestatin and adropin are thought to regulate glucose and lipid metabolism, weight gain, and fluid intake in adults. The roles of obestatin and adropin in the regulation of weight and glucose and lipid metabolism in Prader-Willi syndrome (PWS) and non-syndromic pediatric obesity are poorly understood. This study compares the concentrations of obestatin and adropin in infants and children with PWS and age- and BMI-z matched controls, and explores the as...

hrp0086p1-p215 | Diabetes P1 | ESPE2016

The Influence of ß-Cell Autoimmunity on Cystic Fibrosis Related Diabetes Mellitus – A DPV Registry Analysis

Wurm Michael , Prinz Nicole , Konrad Katja , Laubner Katharina , Kieninger Dorothee , Kapellen Thomas , Wiemann Dagobert , Schebek Martin , Lilienthal Eggert , Smaczny Christina , Witsch Michael , Bauer Maria , Holl Reinhard W.

Background: Knowledge on the role of diabetes antibodies in CF related diabetes mellitus (CFRD) is scarce.Objective and hypotheses: We aim to inquire the relevance of ß-cell autoimmunity in CFRD.Methods: The German/Austrian/Luxembourgian diabetes registry DPV was searched for CFRD patients. 878 individuals were analyzed by multivariable regression models.Results: 8.7% of patients with CFRD in our cohort ...

hrp0082p1-d1-176 | Perinatal and Neonatal Endocrinology | ESPE2014

A Novel Mutation of the PCSK1 Gene with Surprising Enzymatic Consequences Causes Proprotein Convertase 1/3 Deficiency and Consequent Endocrinopaties

Abu-Libdeh Abdulsalam , Wilschanski Michael , Abbasi Montaser , Blanco Elias , Lindberg Iris , Yourshaw Michael , Berger Itai , Martin Martin , Elpeleg Orly , Zangen David

Background: Congenital diarrheal disorders (CDDs) are a large group of life-threatening genetic disorders that are frequently difficult to diagnose. We report four siblings from consanguineous kindred with persistent generalized malabsorptive diarrhea hypothyroidism, GH deficiency, intermittent diabetes insipidus, and monogenic obesity.Objective and hypotheses: To find the genetic etiology for the CDD in four cases from consanguineous family using homozy...

hrp0086p1-p211 | Diabetes P1 | ESPE2016

Exploration of Social Network, Social Integration, and Socioeconomic Status in Families with Young Children with Type 1 Diabetes

Heinrich Michaela , Galler Angela

Background: Psychosocial factors are important for patients with chronic diseases such as type 1 diabetes. Lack of social network and poor social support are risk factors that affect morbidity. Little is known about social network and social integration of families with children with type 1 diabetes.Objective and hypotheses: Aim was to explore the social network of families with young children with type 1 diabetes and to examine associations between indi...

hrp0095fc7.2 | Growth and Syndromes | ESPE2022

Post-hoc subgroup analysis of the pivotal phase 3 study of once-weekly somatrogon vs once-daily Genotropin: results from subjects with peak stimulated growth hormone value <6.7 ng/ml

Phillip Moshe , Deal Cheri , Silverman Lawrence , Henocque Robin , Nijher Monica , Wajnrajch Michael , Wang Ronnie , Cara Jose

Objectives: Somatrogon is a long-acting recombinant human growth hormone (GH) approved by the EMA as a once weekly treatment for children with GH deficiency (GHD). The peak stimulated GH cut-off value for diagnostic criteria for GHD varies according to country-specific guidelines. The objective of this subgroup analysis of the pivotal phase 3 somatrogon study was to evaluate the primary and secondary efficacy endpoints for subjects with a peak GH value <6.7...