hrp0086p1-p470 | Fat Metabolism and Obesity P1 | ESPE2016

Brain Structure, Executive Function and Appetitive Traits in Adolescent Obesity

Jan de Groot Cornelis , van den Akker Erica , Rings Edmond , Delemarre-van de Waal Henriette , van der Grond Jeroen

Background: Children with obesity show differences in brain structure, executive function and appetitive traits when compared to lean peers. Results of imaging studies, however, have been contradictory.Objective and hypotheses: To investigate whether childhood obesity is associated with differences in brain structure and whether differences associate with executive function and appetitive traits.Method: A cross-sectional case-contr...

hrp0097p1-18 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Bone mineral density in children and adolescents with Cystic Fibrosis: a follow-up study.

Tamer Gizem , G.M. Arets Hubertus , K. van der Ent Cornelis , M. van Santen Hanneke , J. van der Kamp Hetty

Background: Adults with CF show a higher rate of osteoporosis compared to healthy adults. Achieving proper bone mass is a process starting in childhood. We aimed to evaluate the prevalence of decreased bone mineral density (BMD), changes during puberty and risk factors for low BMD in children and adolescences with CF in a large Dutch cohort.Patients and methods: A retrospective observational cohort study was performed in...

hrp0097p1-562 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Concurrent premature gonadotrophic activation and gonadal insufficiency in young girls with a brain tumor

Evelein Annemieke , Schouten - Van Meeteren Netteke , Bakker Boudewijn , Gidding Corrie , Van der Wetering Marianne , Van Santen Hanneke

Background: It is well known that endocrine comorbidities occur frequently in children with cancer, especially in those with a brain tumor. In those children, increased intracranial pressure or hydrocephalus may lead to central precocious puberty. Furthermore, chemotherapy, especially alkylating agents, increases the risk for gonadal insufficiency. In this case series we describe 3 young girls with a brain tumor, who develop premature gonadotrophic activation,...

hrp0095p1-316 | Growth and Syndromes | ESPE2022

Curve matching to predict future growth in patients receiving recombinant human growth hormone: an interpretable and explainable method using big data

van Dommelen Paula , Arnaud Lilian , Koledova Ekaterina

Background: Prediction models demonstrate potential in predicting growth in patients receiving recombinant human growth hormone (r-hGH) for growth disorders. However, considerable information from patients is needed to calculate a predicted growth curve. The curve matching technique only requires height data. This technique identifies growth curves that are similar (matched) among real-world patients within a database. The growth curves of these ‘matched...

hrp0092p1-220 | GH and IGFs (1) | ESPE2019

Real-World Data From Electronic Monitoring of Adherence to Growth Hormone Treatment in Children with Growth Disorders: A Descriptive Analysis

Koledova Ekaterina , Tornincasa Vincenzo , van Dommelen Paula

Poor adherence to long-term growth hormone (GH) treatment can lead to suboptimal clinical outcomes. The easypod™ connect eHealth platform enables healthcare professionals to obtain an accurate picture of real-world adherence by allowing patients to transmit adherence data to a database. Our aims were to assess adherence to r-hGH (Saizen, Merck KGaA, Darmstadt, Germany) treatment with the easypod connect platform in children from treatment start to 48 months and to investi...

hrp0086p2-p424 | Gonads & DSD P2 | ESPE2016

Follow-up to Adulthood of Two 46,XY Siblings with 5-alpha Reductase Deficiency and Different Sex of Rearing

Chiniara Lyne , Sandberg David , Van Vliet Guy

Background: 46,XY patients with 5α-reductase deficiency (5-ARD), reared from birth as girls, are reported to self-reassign as boys subsequent to a masculinizing puberty; whether this holds true in cases of early orchidectomy is less well documented.Objective and hypotheses: Prepubertal orchidectomy reduces the likelihood of gender self-reassignment.Method: Presentation, management and outcome of two siblings with 5-ARD with na...

hrp0082p3-d3-798 | Fat Metabolism & Obesity (2) | ESPE2014

Characteristics of a Population of Obese Children and Adolescents: Suggesting a New Paradigm

Van Meter Quentin , Welstead Bethany , Low Joey

Background: Obese children come from families where either one or both parents are obese, suggesting obesity is the result of exposure to detrimental environment.Objective and hypotheses: We propose that inherited insulin resistance is the core which promotes development of obesity and that allergic airway obstruction stalls development of obesity, while peptic gastritis promotes over-eating by confounding portion control.Method: W...

hrp0094p2-180 | Fat, metabolism and obesity | ESPE2021

Impact of the COVID-19 pandemic and related lockdown measures on lifestyle behaviours and quality of life in children and adolescents with severe obesity

Welling MS , Abawi O , van den Eynde E , van Rossum EFC , Halberstadt J , Brandsma AE , Kleinendorst L , van den Akker ELT , van der Voorn B ,

Introduction: Lockdown measures following the COVID-19 pandemic are shown to have greatly affected lifestyle behaviours and health-related quality of life (HRQoL) of children. The impact on children with severe obesity has not yet been described. Aim of this study was to investigate the impact of COVID-19 lockdown on eating behaviours, physical activity (PA), screen time, and HRQoL of children (including adolescents) with severe obesity....

hrp0097fc4.3 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Pathogenic variants in GHSR cause short stature and growth hormone neurosecretory dysfunction; results from a large case series

Punt Lauren , Kooijman Sander , van der Kaay Danielle , van Tellingen Vera , Bakker - van Waarde Willie , Boot Annemieke , van den Akker Erica , van Boekholt Anneke , van Duyvenvoorde Hermine , van Nieuwaal - Van Maren Nancy , Woltering Claire , Heijligers Malou , van der Heyden Josine , Bannink Ellen , Losekoot Monique , de Bruin Christiaan , Maarten Wit Jan , Joustra Sjoerd

Introduction: Ghrelin binds to its receptor GHSR1A, encoded by GHSR, on somatotrophs of the pituitary. Growth hormone (GH) secretion is enhanced by ghrelin binding as well as the receptor’s constitutive activity. Results from in vitro experiments, knock-out mice, and GWAS suggest that heterozygous loss-of-function of GHSR may be associated with short stature, but observations in case studies are equivocal. We aimed to better ch...

hrp0095p1-136 | Multisystem Endocrine Disorders | ESPE2022

Time Taken to Reach a Diagnosis In Children With XY DSD In Expert Endocrine Centres In Europe

Ali Salma , Bryce Jillian , Hiort Olaf , Verrijn Stuart Annemarie , Cools Martine , Luczay Andrea , De Sanctis Luisa , Baronio Federico , Navardauskaite Ruta , Claahsen-van der Grinten Hedi , Yeste Diego , Gan Hoong-Wei , Persani Luca , Capalbo Donatello , Nordenstrom Anna , Faisal Ahmed S.

Background: Reaching a definitive diagnosis in individuals with XY DSD is challenging and the time taken to reach a diagnosis is an important clinical benchmark that has not been sufficiently explored in this group of conditions.Objective: To evaluate the diagnostic process with a focus on the time to diagnosis in children with XY DSD reported via the e-reporting platform (e-REC) of the European Registries for Rare Endoc...