hrp0082p3-d2-856 | Growth (3) | ESPE2014

Anthropometric Evaluation of a Cohort of School-Aged Children: the Need for National Growth References in Romania

Pop Raluca-Monica , Pascanu Ionela , Pop Marian

Background: For children above 5 years of age no specific national growth charts are available in our country, the most widely used being the Swiss ones (Prader, 1989). Previous studies have shown significant differences between the various international standards available regarding. The incidence of growth disorders.Objective and hypotheses: Our aim was to compare the recommended growth reference with a new one based on a national representative sample...

hrp0082p2-d2-581 | Sex Development (1) | ESPE2014

Rare Disease Registries: Perception of Parents and Young People

Jayasena Arundathi , Muscarella Miriam , Ahmed Faisal

Background: Rare-disease registries are considered to be the key for improving patient care through research and audit. In the field of paediatric endocrinology, the views of parents and affected young people about such registries are unclear.Objective: To conduct a survey to understand the views of parents and young people with rare conditions.Method: A structured questionnaire was completed by two groups of clinic attendees, thos...

hrp0097p2-133 | Fat, Metabolism and Obesity | ESPE2023

Integrated care for childhood obesity within the medical and municipal domain

van Mil Edgar , Koetsier Leandra , Seidell Jaap , Sijben Marian , Stroo Judith , van der Velde Marian , Halberstadt Jutka

Childhood obesity is a chronic disease with detrimental effects on health and wellbeing. Treatment was traditionally focused on reducing caloric intake and increasing energy expenditure. However, considering the global increase in prevalence in obesity, especially in the paediatric age range, this approach is insufficient and transition to new initiatives is needed. Obesity is a complex disease resulting from the interaction of multiple underlying factors, including personal c...

hrp0086p2-p398 | Gonads & DSD P2 | ESPE2016

Nonclassic Congenital Adrenal Hyperplasia and Functional Ovarian Hyperandrogenism Diagnosed During the Transition Period: Differences in Clinical, Hormonal and Metabolic Aspects

Boquete Hugo , Azaretzky Miriam , Llano Miriam , Jose Iparraguirre Maria , Schwartz Nadia , Suarez Martha , Boquete Carla , Sobrado Patricia , Fideleff Hugo

Introduction: Hyperandrogenism is a common presenting complaint during the transition period; however, clinical, hormonal and metabolic parameters in these patients have not been yet adequately characterized.Objective: To evaluate the disease-related history, clinical presentation and biochemical parameters in patients diagnosed during this period with nonclassic congenital adrenal hyperplasia (NCCAH) due to 21α hydroxylase deficiency and patients w...

hrp0082p2-d2-425 | Growth Hormone (1) | ESPE2014

Electronic Devices and Single-Dose Dispensing Systems GH are the Most Efficient and Less Loss of Drug

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Elizalde Miriam Miriam , Lorente-Blazquez Isabel , Minguez Cristina , Martinez-Martinez Carlos

Background: Several pharmaceutical formulations marketed GHRH, were being restricted in their choice occasions. Three display groups: single-dose, pre-filled pens/vials and electronic devices, self-injection systems. The choice may contribute to a greater or lesser adherence and a difference in the final cost of treatment (drug loss), attributable to the device itself or presentation. Presentations that require reconstitution device load, partial doses or stop in Pen contribut...

hrp0082p2-d3-447 | Growth Hormone (2) | ESPE2014

Efficacy, Adherence, and Cost Study According to Pathology and Treatment Devices in Children Treated with GHRH

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Elizalde Miriam Miriam , Lorente-Blazquez Isabel , Minguez Cristina , Martinez-Martinez Carlos

Background: Currently there are three distinct groups of GH devices: single dose (JM), preloaded pen/vial (VM) systems and electronic devices (DE) autoinjector systems. The choice could determine a greater or lesser adherence and thus influence the final treatment efficacy.Objective: Comparison of the therapeutic efficacy as measured by growth rate (VC), IGF1 as a function of various clinical variables, indicating GH and device used.<p class="abstext...

hrp0095p1-315 | Growth and Syndromes | ESPE2022

A Novel PADI6 Variant as a Cause of Recurrent Miscarriage and Multi Locus Imprinting Disturbance within the same family

Stern Eve , Goldman Shira , De Franco Elisa , E Flanagan Sarah , Pinhas-Hamiel Orit , Regev Miriam

Background: Genomic imprinting is the process by which preferential methylation of one parental allele results in parent of origin specific expression of particular genes. Methylation is established during gametogenesis and is maintained throughout development. Alterations in any of the processes in the establishment and maintenance of methylation can lead to aberrant imprinting, which can result in either reactivation of the original silent allele or the sile...

hrp0086p1-p341 | Gonads &amp; DSD P1 | ESPE2016

Application of on Line Learning in Assessment of Competencies of Fellows Pediatric Endocrinology

Kranenburg Laura , Reerds Sam , Cools Martine , Muscarella Miriam , Grijpink Kalinka , Quigley Charmian , Drop Stenvert

Background: The European Society for Paediatric Endocrinology (ESPE) developed an interactive e-learning portal for pre-and postdoctoral training: (www.espe-elearning.org).Objective and hypotheses: The aim of the study was to evaluate the role of e-learning in the formative assessment of competencies (medical expert, communicator) of fellows in pediatric endocrinology in informing patients and parents with a di...

hrp0095rfc8.3 | Diabetes and Insulin | ESPE2022

Peripheral nerve conduction velocity in children and young adults with type 1 diabetes mellitus as a marker of metabolic control

Oberhauser Sarah , l'Allemand Dagmar , Heldt Katrin , Gozzi Tiziana , Stasinaki Aikaterini , Eilers Miriam , Lütschg Jürg , Broser Philip

Background: Nerve conduction velocity (NCV) abnormalities are considered as early signs of peripheral neuropathy in patients with diabetes mellitus (DM). We investigated which determinants NCV is subject to and how it is related to markers of metabolic control.Methods: We included 51 patients treated at the outpatient clinic of paediatric diabetology because of their type 1 DM and randomly assigned them for a nerve condu...

hrp0095p1-268 | Fat, Metabolism and Obesity | ESPE2022

Preliminary evidence for a strong effect of leptin on mood and behaviour in patients with congenital leptin deficiency

von Schnurbein Julia , Remy Miriam , Brandt Stephanie , Manzoor Jaida , Kohlsdorf Katja , Mahmood Saqib , Hebebrand Johannes , Wabitsch Martin

Purpose: States of starvation are characterized by reduced physical activity and social withdrawal. The reduction of leptin levels during starvation has been proposed to be a mediator of these changes, therefore we aimed to ascertain if leptin substitution in patients with congenital leptin deficiency (CLD) can increase physical activity and improve mood.Methods: Seven CLD patients were filmed prior to and after short te...