hrp0092p2-129 | Fat, Metabolism and Obesity | ESPE2019

Characterization of Adherence to Follow-up and Therapeutical Outcomes in a Large Cohort of 1300 Patients with Obesity Visited in a Specialized Tertiaty Care Center

Martínez-Villanueva Julián , González-Leal Rocío , Argente Jesús , Ángel Martos-Moreno Gabriel

Background: Adherence to follow-up visits in children and adolescents with obesity is a key factor for successful therapeutic outcomes in these patients.Objective: To analyze the adherence to scheduled visits and drop-out rate and the anthropometric, metabolic and behavioral outcomes as a result of an intervention program in a large cohort of children and adolescents with obesity.Patients a...

hrp0089fc2.1 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

Burosumab, a Fully Human anti-FGF23 Monoclonal Antibody, for X-linked Hypophosphatemia (XLH): Sustained Improvement in two Phase 2 Trials in Affected Children 1–12 years old

Linglart Agnes , van't Hoff William , Whyte Michael P. , Imel Erik , Portale Anthony A. , Boot Annemieke , Hogler Wolfgang , Padidela Raja , Mao Meng , Skrinar Alison , Martin Javier San , Carpenter Thomas O.

In XLH, excess fibroblast growth factor 23 (FGF23) causes hypophosphatemia and consequent rickets, skeletal deformities, and growth impairment. The efficacy and safety of burosumab, a fully human monoclonal antibody against FGF23, was evaluated in two Phase 2 trials in children with XLH. In CL201, 52 children with XLH (5–12 years old, Tanner ≤2) were randomized 1:1 to receive subcutaneous burosumab every 2 (Q2W) or 4 (Q4W) weeks, with doses titrated up to 2 mg/kg to...

hrp0089p1-p015 | Adrenals and HPA Axis P1 | ESPE2018

New Insights into Low Dose Dexamethasone Suppression Test in Paediatric Cushing’s Syndrome

Wilkinson Ingrid C E , Martin Lee , Grossman Ashley B , Monson John P , Akker Scott , Savage Martin O , Drake William M , Storr Helen L

Background: The Low dose dexamethasone suppression test (LDDST) is an important investigation for suspected Cushing’s Syndrome (CS). The traditional definition of normal suppression of serum cortisol to ≤50 nmol/l during the LDDST (0.5 mg 6 hrly × 48 h) comes from a time when biochemical autoanalysers did not routinely detect very low values. Previous studies reported 5.1–8.3% of patients with Cushing’s Disease (CD) suppressed to <50 nmol/l at 48 ...

hrp0089p1-p115 | Fat, Metabolism and Obesity P1 | ESPE2018

Greater Maternal BMI Early in Pregnancy and Excessive Gestational Weight Gain are Independently Associated with Adverse Health Outcomes in the Offspring at Age 7 Years

Derraik Jose G B , Chiavaroli Valentina , A Hopkins Sarah , Biggs Janene B , Rodrigues Raquel O , Seneviratne Sumudu N , McCowan Lesley M E , Cutfield Wayne S , Hofman Paul L

Background: Maternal overweight/obesity during pregnancy and excessive gestational weight gain (GWtG) have been recognized as important early-life risk factors for childhood obesity. We aimed to examine whether maternal BMI at 20 weeks of gestation and excessive GWtG were associated with alterations in body composition and metabolism in childhood in the offspring of primiparous mothers who participated in a randomised controlled trial of exercise regimen during pregnancy.<...

hrp0089p1-p126 | Fat, Metabolism and Obesity P1 | ESPE2018

Effect of Hormonal Changes on Exocrine Pancreatic Function in Girls with Anorexia Nervosa

Stojewska Małgorzata , Malczyk Żaneta , Kwiecień Jarosław , Mazur Bogdan , Ziora Katarzyna , Oświęcimska Joanna

Background: Anorexia nervosa (AN) is a good biological model of chronic malnutrition. Although some reports according to the gastrointestinal disturbances in response to starvation have been published so far, the exocrine function of pancreas in patients with AN has not been studied thoroughly, yet. There is also no data on the effect of hormonal changes in AN on it. Therefore, the aim of this study is: 1) Evaluation of pancreatic exocrine function in patients with anorexia ne...

hrp0086p1-p567 | Perinatal Endocrinology P1 | ESPE2016

Risk Factors and Clinical Features of a Large Cohort of Patients with Transient Hyperinsulinemic Hypoglycaemia

Ozsu Elif , Reed John , Hussain Alsaffar , Patil Prashant , Giri Dinesh , Dharmaraj Poonam , Blair J O , Das Urmi , Senniappan Senthil , Didi Mohommad

Background: Transient hyperinsulinemic hypoglycaemia (THH) is associated with risk factors such as prematurity, maternal diabetes mellitus, perinatal hypoxia, small for gestational age (SGA) and syndromes like Beckwith Wiedemann syndrome (BWS).Objective: To present the features of a large cohort of patients with THH managed at a Quaternary referral centre.Method: Patients who had neonatal onset HH that resolved before the 2nd birth...

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....

hrp0094p2-287 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Novel LZTR1 mutations in subjects with features of Noonan Syndrome and GH insensitivity negatively regulate GH-induced IGF-I production and hyperactivate GH-induced ERK1/2 activation in response to GH in vitro

Chatterjee Sumana , Romeo Bertola Debora , Agwu Chizo , Maharaj Avinaash , Williams Jack , Cottrell Emily , Shapiro Lucy , Andrews Afiya , Savage Martin O. , Gaston-Massuet Carles , Metherell Louise A. , Storr Helen L. ,

Background: Noonan Syndrome (NS) can overlap clinically and biochemically with growth hormone insensitivity [GHI; short stature (SS), low IGF-I and normal/elevated GH levels]. Mutations in multiple genes regulating RAS/MAPK pathway have been identified in NS including LZTR1 variants. Function of LZTR1 is poorly understood and its role in growth retardation is unknown.Objectives: To functionally characte...

hrp0097p1-298 | GH and IGFs | ESPE2023

Quality of life at adult height in adolescents and young adults treated by GH

González Briceño Laura , Magali Viaud , Beltrand Jacques , Flechtner Isabelle , Dassa Yamina , Samara-Boustani Dinane , Thalassinos Caroline , Busiah Kanetee , Pinto Graziella , Jaquet Delphine , Polak Michel

Background: short stature can lead to emotional and social stress in children and adolescents. We previously demonstrated in a cohort of 74 children that a one-year growth hormone treatment (GHT) is associated with a significant improvement of quality of life (QoL) especially on emotional and social scales, both in general (PedsQL 4.0) and height-specific (QoLiSSY) questionnaires. Whether this improvement is sustained until adult height remains to be documente...

hrp0097lb19 | Late Breaking | ESPE2023

Identification of a novel homozygous mutation in LEPR gene associated with severe early-onset pediatric obesity in two sisters from Central Brazil

Machado Pinto Renata , P Pinto Irene , G Rodovalho Ricardo , de O Silva Lorena , VC Fukushima Lorraine , S Moreira Vanessa , S B de Souza Cristiane

Introduction: Early-onset severe obesity (before five years of age) without intellectual deficit, dysmorphisms, or malformations raises the hypothesis of monogenic obesity. The leptin receptor (Lepr) pathway is essential for food intake regulation, energy expenditure, and body weight. Mutations in leptin and the Lepr have been shown to cause early-onset severe obesity in mice and humans.Objective: To report the clinical ...