hrp0092p3-266 | Late Breaking Abstracts | ESPE2019

A Novel Mutation of INSR Gene in a Child with Type A Insulin Resistance

Verdecchia Federica , Akcan Nese , Dastamani Antonia , Morgan Kate , Semple Robert , Shah Pratik

Background:Mutations of insulin receptor gene (INSR) lead to a wide spectrum of inherited insulin resistance syndromes. Type A insulin resistance is one of the these syndromes which is inherited autosomal dominant and leads to mild clinical symptoms after puberty.Objective and Hypothesis: To report a novel mutation of INSR gene mutation in a case of Type A insulin resistance who presented with transient neonatal diabetes...

hrp0089p1-p093 | Fat, Metabolism and Obesity P1 | ESPE2018

Functional Characterization of Novel and Known Genetic Variants in the Leptin Receptor (LEPR) Gene of Two Patients with Morbid Obesity

Voigtmann Franziska , Robert Stein , Landgraf Kathrin , Abou Jamra Rami , Kiess Wieland , Korner Antje

Background: The leptin signaling cascade is a crucial regulator of satiety and energy homeostasis in the hypothalamus, comprising extracellular leptin binding to its receptor, phosphorylation and nuclear translocation of STAT3 (signal transducer and activator of transcription 3) and consecutively the generation of a central satiety signal via neuropeptide secretion. We identified three variants in the extracellular domains of the LEPR gene in two children with severe ...

hrp0089p2-p312 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Ultrasound Assessment of Pubertal Breast Development: Intra- and Inter-Observer Agreement

Bruserud Ingvild , Mathieu Roelants , Oehme Ninnie , Egil Eide Geir , Bjerknes Robert , Rosendahl Karen , Juiliusson Petur

Background: Clinical assessment of pubertal breast development using Tanner staging is subjective. This has led to the introduction of ultrasound, aiming for a more objective analysis. However, information regarding its reliability is lacking.Objective: To examine intra- and inter-observer agreement of breast maturity staging using ultrasound, and to examine the precision of direct measurements of the gland.Materials and methods: F...

hrp0086lbp8 | (1) | ESPE2016

Impact of Weight Loss after Bariatric Surgery on Gonadic Function in Severely Obese Female Adolescents

Gottrand Madeleine , Aubry Estelle , Aumar Aurelien , Caiazzo Robert , Cartigny Maryse , Pigeyre Marie , Pattou Francois , Gueorguieva Iva

Background and objectives: To study short-term effects of consequent weight loss on ovarian function and its correlation with morphometric and metabolic changes at 1 and 2 years after a laparoscopic adjustable gastric banding (LAGB) placement in severely obese adolescents.Subjects and methods: Our retrospective and observational study was conducted between July 2015 and January 2016 in a single center. Menstruations, anthropology and biological data were...

hrp0082p1-d1-63 | Diabetes | ESPE2014

Th17 Cells in Children with New Onset Type 1 Diabetes

Piekarski Robert , Ben-Skowronek Iwona , Bojarska-Junak Agnieszka , Tabarkiewicz Jacek , Szewczyk Leszek

Background: A recent data indicates a complex mechanism of β-cell destruction in type 1 diabetes in which despite Th1/Th2 bias different other populations of immune cells like Th17 with specific IL17A secretion with proinflammatory action will mediate β cells autoreactivity. In humans, the relevance of Th17 cells in new onset T1DM is still controversial.Objective and hypotheses: The aim of our study was to evaluate circulating Th17 in children ...

hrp0082p2-d3-391 | Fat Metabolism & Obesity (2) | ESPE2014

The Relationship Between Weight-Related Anthropometric Parameters and Menarche in Norwegian Girls

Bratke Heiko , Brannsether Bente Ellingsen , Aszmus Jorg , Bjerknes Robert , Juliusson Petur B

Aim: A decline in the age at menarche has been reported in recent years in several well-off populations. The prevalence of childhood overweight and obesity has increased during the last decades with some levelling off during the last years. The aim of the present study was to study the association between parameters of overweight and menarche in Norway.Material: Cross-sectional data from The Bergen Growth Study, collected in 2003–2006 from 4016 girl...

hrp0082p2-d2-464 | Growth (1) | ESPE2014

Interrelationships Between BMI and Other Overweight Related Anthropometric Variables in Childhood

Brannsether Bente , Eide Geir Egil , Roelants Mathieu , Bjerknes Robert , Juliusson Petur Benedikt

Background: Anthropometry is the general tool for defining overweight and obesity, with BMI cut-offs adjusted for sex and age, as the most commonly used variable in childhood.Objective and hypotheses: Based on the interrelationships between BMI and different overweight-related anthropometric variables we wanted to find out which anthropometric variables contribute most to the variation in BMI, and how age affect this picture?Method...

hrp0082p3-d1-984 | Thyroid | ESPE2014

Thyroid Disorders After Oncologic Treatment in Children

Ben-Skowronek Iwona , Sadurska Elzbieta , Prazmo-Zaucha Agnieszka , Piekarski Robert , Kowalczyk Jerzy

Background: The length of patient survival after cancer treatment is increasing and in some cases does not differ from the average life span in healthy individuals.Objective and hypotheses: The aim of the study is evaluation of thyroid function after oncologic treatment in children.Method: A group of 158 patients aged 16–25 who underwent oncologic treatment in childhood and the control group −66 children and young adults...

hrp0084fc8.3 | Obesity - Basic | ESPE2015

Testing the Appetite Suppressing Effects of Vitamin B12 Conjugates of Peptide YY

Roth Christian L , Elfers Clinton , Henry Kelly , Burke Rachael , D'Ambrosio Gabrielle , Doyle Robert P

Introduction: Anti-obesity drugs with increased efficacy and safety are urgently being sought. Peptide YY3–36 (PYY3–36) is an attractive drug target due to its anorectic effect and decreased circulation concentration, without drug resistance, in obese individuals. Its short half-life and required method of delivery are limiting factors in its clinical application. Transport and uptake mechanisms, including blood-brain barrier passage, of vitamin B12 (B12) is highly e...

hrp0084p2-227 | Bone | ESPE2015

Longitudinal Bone Development in Patients with Classical Congenital Adrenal Hyperplasia: Data Using Peripheral Quantitative Computed Tomography

Bechtold Susanne , Duman Leyla , Weissenbacher Claudia , Roeb Julia , Pozza Robert Dalla , Schmidt Heinrich

Background and aims: Glucocorticoid treatment may influence bone and muscle development in patients with congenital adrenal hyperplasia (CAH). This study evaluated bone mineral density (BMD), bone geometry and muscle mass longitudinally throughout childhood.Methods: 18 patients (ten males, eight females) with classical CAH were included. BMD, bone geometry and muscle mass were measured using peripheral quantitative computed tomography (pQCT) in prepubert...