ESPE Abstracts

ESPE Abstracts

Published by BioScientifica
Previous issue | Volume 92 | ESPE2019 | Next issue

58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

Card image cap
The theme of this year’s meeting is Variety and Variation in Paediatric Endocrinology. Join us in Vienna to explore the diversity we encounter in our discipline and the care that we have to exercise when using the term “normality”. Whilst gaining an update on the latest treatments, clinical best practice and cutting edge research in the field of paediatric endocrinology.

Free Communications

Growth and Syndromes (to include Turner Syndrome)

Previous section
Pituitary, Neuroendocrinology and Puberty Session 2
Table of contents
Next section
Adrenals and HP Axis

hrp0092fc12.1 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Increasing Knowledge in IGF1R Defects: Lessons from 20 New Patients

Giabicani Eloïse , Willems Marjorie , Steunou Virginie , Chantot-Bastaraud Sandra , Rossignol Sylvie , Le Bouc Yves , Netchine Irène , Brioude Frédéric

Background: IGF1R is a keystone of foetal growth regulation by mediating the effects of both IGF-I and IGF-II. Recently the first clinical cohort of patients carrying an IGF1R defect has been reported from which a clinical score was established for diagnosis. Since no external validation of this score is available we assessed it in a large cohort of patients with identified IGF1R defects. Furthermore we aim at setting-up a functional test to ...
shares

hrp0092fc12.2 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

NPR2 Gene Mutations were Found in 5.4% Children with Familial Short Stature

Plachy Lukas , Petruzelkova Lenka , Strakova Veronika , Elblova Lenka , Kucerova Petra , Obermannova Barbora , Kolouskova Stanislava , Snajderova Marta , Zemkova Dana , Dusatkova Petra , Lebl Jan , Sumnik Zdenek , Pruhova Stepanka

Introduction: C-type natriuretic peptide receptor encoded by NPR2 gene stimulates chondrocyte differentiation and hypertrophy and extracellular matrix production within the growth plate. The phenotypical spectrum of NPR2 mutations is broad, from severe autosomal recessive acromesomelic dysplasia to milder autosomal dominant growth disorders. Some children with NPR2 variants are treated with growth hormone (GH), however, with the inco...
shares

hrp0092fc12.3 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Growth Hormone Treatment in Adults with Prader-Willi Syndrome has Sustained Positive Effects on Body Composition

Damen Layla , Donze Stephany , Kuppens Renske , Bakker Nienke , de Graaff Laura , Alfen-van der Velden Janiëlle van , Stikkelbroeck Nike , Hokken-Koelega Anita

Context: In children with Prader-Willi syndrome (PWS), the benefits of growth hormone (GH) treatment are well established. Currently, when young adults with PWS have attained adult height (AH), they have to stop GH treatment. Several one year studies have shown that GH treatment is also beneficial for adults with PWS, improving body composition. However, little is known about the longer-term effects.Objective: To investi...
shares

hrp0092fc12.4 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Integration of Transcriptomic and Epigenomic Data in Childhood Identifies a Subset of Individuals Born Small for Gestational Age (SGA) with "catch-up" Growth Who Become Pre-Hypertensive in Early Adulthood

Garner Terence , Murray Philip , Sellers Robert , Whatmore Andrew , Clayton Peter , Stevens Adam

Background: Children born SGA are known to develop cardiometabolic conditions in adulthood1. Nothing is known about the relationship of the transcriptome (gene expression) and epigenome (DNA methylation) to birth size and the future development of cardiometabolic disease.Aim: To identify, I) differences and functional links between epigenome age-7years, transcriptome age-9years associated and ...
shares

hrp0092fc12.5 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Integrated Analysis of Baseline Blood Transcriptome and Genome Identifies Clusters of Turner Syndrome Patients with Different Responses to Recombinant Human Growth Hormone

Sellers Robert , Amin Amina , Patel Kajal , Garner Terence , Whatmore Andrew , Koledova Ekaterina , Murray Philip , Chatelain Pierre , Clayton Peter , Stevens Adam

Responsiveness to recombinant human growth hormone (rhGH) treatment in Turner syndrome (TS) is highly variable. Previous research has characterised genetic variants associated with rhGH response but these only have a minor impact. The relationship of these genetic variants to the blood transcriptome is unknown. The aim of this analysis was to relate unsupervised baseline blood transcriptome and genetic data from TS patients to their phenotype, karyotype and responsiveness to r...
shares

hrp0092fc12.6 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

An Integrated Systems Biology Analysis of the Genome, Epigenome and Transcriptome Identifies a Distinct Pattern of Hypermethylation Associated with Low Childhood Growth

Garner Terence , Sellers Robert , Guo Hui , Whatmore Andrew , Clayton Peter , Stevens Adam , Murray Philip

Background: Current data from genome wide association studies (GWAS) explains 24.6% of the variation in adult height from 3290 single nucleotide polymorphisms (SNPs)1. Data on the genetic control of growth velocity during childhood is more limited and no previous studies have linked childhood growth to changes in the transcriptome (gene expression) or epigenome (DNA methylation). Here we present a systems biology approach to understand mid-child...
shares

Published by BioScientifica

ESPE Abstracts

© Bioscientifica 2022 | Privacy policy | Cookie settings

BiosciAbstracts

Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.

Find out more