hrp0097p1-567 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

An International Delphi Based Study For Developing A Core Outcome Set For Hypospadias Surgery

Leunbach Tina. , Yankovic Francisca , Springer Alexander , Wisniewski Amy , Burgu Berk , Shnorhavorian Margarett , Braga Luis , Ernst Andreas , Lucas-Herald Angela , O'Toole Stuart , Faisal Ahmed S. , F. Rawashdeh Yazan

Background: Heterogeneity in reported outcomes limits the ability to compare results of studies evaluating hypospadias surgery.Objective: To identify a core outcome set (COS), a minimal number of defined outcomes, to be routinely measured and reported in all trials across the age span following hypospadias surgery.Materials and Methods: A study protocol was drafted and the study re...

hrp0097p1-576 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Transition from Paediatric to Adult Care in Differences of Sex Development (DSD) – Results from the German Network “DSDCare”

Döhnert Ulla , Helge Kathrin-Bettina , Reisch Nicole , Ellerkamp Verena , Kutscheidt Ronja , Kumst Anjo , Roggemann Eleonore , Jürgensen Martina , Balke Thomas , Heidenreich Andreas , Hiort Olaf

Introduction: The aim of the project “DSDCare” is to implement standardized care for people with DSD following national and international guidelines and to evaluate structural, process and outcome quality of care at 10 specialized centres in Germany from May 2020 till June 2023. Transition from paediatric to adult care is a crucial phase in chronic and rare conditions. In DSD, “loss to follow-up” is usually not associated with acute com...

hrp0098rfc11.6 | Fat, Metabolism and Obesity 2 | ESPE2024

Pten knockout in osteoprogenitor cells leads to loss of adipose tissue

Kolbig Florentien , Lorenz Judith , Roth Lisa , Lindhorst Andreas , Thor Doreen , Le Duc Diana , Gericke Martin , Kiess Wieland , Klöting Nora , Krause Kerstin , Garten Antje

Background and aim: Pediatric patients with germline mutations in phosphatase and tensin homolog (Pten) frequently develop aberrant adipose tissue growth/lipomas. In severe cases this can have adverse effects on organ function and quality of life. Due to the lack of understanding the basis of lipoma development, no systemic treatment options are available. We therefore aimed to characterize an already described lipoma bearing mouse model with conditio...

hrp0098p1-12 | Bone, Growth Plate and Mineral Metabolism 1 | ESPE2024

X-linked hypophosphatemia caused by a novel deep intronic variant in the PHEX gene

Huebner Angela , Koehler Katrin , Porrmann Joseph , Heinke Sophie , Quitter Friederike , Streiff Eliane , Schröck Evelin , William Doreen , Dahl Andreas , Ae Lee-Kirsch Min , Hackmann Karl

X-linked hypophosphatemia (XLH, MIM#307800) is a rare, dominantly inherited skeletal disorder characterized by excessive production and elevated circulating levels of fibroblast growth factor 23 (FGF23) resulting in renal phosphate wasting, hypophosphatemia, and defective bone mineralization. This leads to rickets, osteomalacia, pain, skeletal deformities, short stature, and reduced physical function. Recently, a monoclonal FGF23 antibody (burosumab) has become available as a ...

hrp0089s1.3 | Recent developments in the understanding of Hypothalamo-pituitary disorders | ESPE2018

A Novel Role for Vasopressin in Parenting

Bendesky Andres

The extent and quality of parental care that children receive greatly influences their development, impacting their physical and psychological growth, their educational and social achievement, and their disease risk as both children and adults. It is thus remarkable that around 25% of children are physically abused worldwide. Parenting is a complex behavior, and we still know little about the causes and mechanisms by which people differ in their parental behaviors. To learn mo...

hrp0095p1-250 | Diabetes and Insulin | ESPE2022

The Metabolic Syndrome is frequent in Children and Adolescents with Type 1 Diabetes Compared to Healthy Controls

Barrett Mørk Freja , Otto Broby Madsen Jens , Ascanius Pilgaard Kasper , Kryger Jensen Andreas , Klakk Heidi , Tarp Jakob , Bugge Anna , Heidemann Malene , Van Hall Gerrit , Pociot Flemming , Wedderkopp Niels , Johannesen Jesper

Background: There is a rise in overweight and obesity among children and adolescents with type 1 diabetes (T1D) in parallel with a rise in the metabolic syndrome (MS) among children and adolescents in general.Objective: The aim of the study was to describe the prevalence and characteristics of the MS in children and adolescents with T1D compared to their healthy counterparts.Design and Sett...

hrp0092p1-6 | Adrenals and HPA Axis | ESPE2019

Health status of children with Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency in the United Kingdom: results of a multi-centre cohort study

Bacila Irina-Alexandra , Mahdi Sundus , Acerini Carlo L , Krone Ruth , Patel Leena , Alvi Sabah , Randell Tabitha , Gevers Evelien , Dattani Mehul , Cheetham Timothy , Kyriako Andreas , Ryan Fiona , Crowne Elizabeth , Davies Justin H , Ahmed S. Faisal , Krone Nils P

Introduction: Congenital adrenal hyperplasia (CAH) is associated with long-term health problems. However, little is known about co-morbidities and their onset in children and young persons (CYP).Objective: To establish the health status of CYP with CAH across the United Kingdom.Methods: A multi-centre prospective study recruited 102 patients with 21-hydroxylase deficiency targeting...

hrp0089rfc3.1 | Diabetes and Insulin 1 | ESPE2018

Diagnostics of Early Atherosclerosis Risk in Kids (DEAR-Kids): Retinal Vessel Analysis in Pediatric Type 1 Diabetes – Retinal Arteriolar Narrowing Caused By High HbA1c

Wurm Michael , Leonie Kuhnemund , Maier Lisa , Mi Xia , Lichte Kai , Hallermann Kristiane , Krause Alexandra , Brichta Corinna , van der Werf-Grohmann Natascha , Krebs Andreas , Hanssen Henner , Deibert Peter , Schwab Karl Otfried

Background/Objective: Micro-and macrovascular changes are the cause for diabetes complications. Retinal vessel analysis is a unique method to examine microvascular changes in brain derived vessels.Subjects/Methods: Sixty-seven pediatric and adolescent type 1 diabetes patients and 58 healthy control persons underwent nonmydriatic retinal photography of both eyes. Arterioles and venules positioned in the region 0.5 to 1 diameter of the optic disc measured ...

hrp0089p2-p016 | Adrenals and HPA Axis P2 | ESPE2018

The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis

Skordis Nicos , Fanis Pavlos , Toumba Meropi , Stylianou Charilaos , Picolos Michalis , Andreou Elena , Kyriakou Andreas , Yiannakide-Myli Lambrini , Iasonides Michalis , Nicolaou Stella , C Kyriakides Tassos , Tanteles George A , Neocleous Vassos , Phylactou Leonidas A

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is worldwide the most common autosomal recessive disorder caused by defects in the CYP21A2 gene.Objective: The main objective of the study was to evaluate CAH in Cyprus over a 10 year period.Methods: All known patients were included in a population retrospective subset analysis of Cypriot patients with confirmed CAH and their clinica...

hrp0089p2-p135 | Fat, Metabolism and Obesity P2 | ESPE2018

A Simple Relaxation Exercise Reduces Stress in Obese Youth - A Path to a Healthy Lifestyle?

Stasinaki Aikaterini , Buchter Dirk , Shih C.-H. I. , Heldt Katrin , White Catherine , Ruegger Dominic , Filler Andreas , Gindrat Pauline , Durrer Dominique , Brogle Bjorn , Farpour-Lambert Nathalie , Kowatsch Tobias , L'Allemand Dagmar

Introduction: Lack of impulse control and impaired stress regulation may explain the development of obesity and its challenging therapy, already in youth. To improve self-regulation of overweight adolescents and subsequently their weight status, we tested, whether a biofeedback relaxation exercise decreases stress and whether relaxation services implemented in a novel Smartphone App supported intervention have effects on stress and weight outcomes.Method...