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 ...

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...

hrp0092p1-223 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Tall Stature and Macrodactyly of the Great Toes Due to a Novel Mutation in the Natriuretic Peptide Receptor-2 Gene

Lauffer Peter , van Duyvenvoorde Hemine , van Haeringen Arie , van der Kaay Danielle

Background: Mutations in the gene encoding the natriuretic peptide receptor-2 gene (NPR2) are responsible for monogenic growth disorders. Loss-of-function variants cause extreme short stature and skeletal dysplasia. Gain-of-function mutations cause tall stature with - in some cases - macrodactyly of the great toes, a Marfanoid habitus, arachnodactyly and scoliosis. We describe a novel gain-of-function mutation in exon 8 of NPR2 in a family wi...

hrp0092p2-187 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

"Transition Readiness in Girls and Young Women with Turner Syndrome – are they Less Ready?" Associations between Transition Readiness and Diagnosis

Culen Caroline , Herle Marion , Froehlich-Reiterer Elke , Bluemel Peter , Wagner Gudrun , Ertl Diana-Alexandra , Haeusler Gabriele

Objective: Young women with Turner syndrome are known to be especially at risk for lost of follow-up. Recent literature indicates that there are disparities regarding transition readiness between different chronic conditions. To assess differences in transition readiness might be crucial for identifying special needs in specific patient cohorts when preparing for transfer to adult care. Our hypothesis was, that young women with Turner syndrome would score lowe...

hrp0089fc7.6 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

TSH-Resistance and Remaining Low-T4 in Former Low-Birthweight Infants – A Study in Monozygotic Twins with Intra-Twin Birth-Weight-Differences

Schulte Sandra , Woelfle Joachim , Bartmann Peter , Schreiner Felix , Panou Evangelia , Vollbach Heike , Gohlke Bettina

Background: Low birth-weight (bw) and unfavourable intrauterine conditions are associated with a subsequent impact on the endocrine system. However, very little is known about the impact on thyroid function.Objective and hypotheses: We observed genetically identical twins with intra-twin bw-differences from birth until adolescence to objectify the impact of a lower bw on development and health in later life.Method: Bw-difference of...

hrp0089fc11.2 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Elevated Phosphate Levels Inhibit Skeletal Muscle Cell Differentiation In vitro

Raimann Adalbert , Egerbacher Monika , Greber-Platzer Susanne , Dangl Alexander , Pietschmann Peter , Haeusler Gabriele

Background: Hyperphosphatemic conditions such as chronic kidney disease are associated with muscle wasting and impaired life quality. While muscle regeneration relies on myogenic progenitor recruitment, the effects of high phosphate loads on this process has not been investigated in detail. This study aims to clarify the direct effectsof hyperphosphatemic conditions on skeletal myoblast differentiation in an murine cell model system.Material and methods:...

hrp0089fc12.6 | Diabetes and Insulin 2 | ESPE2018

Persistent Beneficial Effects of Metformin in Children and Adolescents with Type 1 Diabetes: Adelaide Metformin Randomized Controlled Trial Follow Up

Maftei Oana , Couper Jennifer , Anderson Jemma , Ricci Peter , Gent Roger , Giles Lynne , Pena Alexia

Puberty is a critical period for the development and acceleration of vascular complications in Type 1 diabetes (T1D). We have shown that metformin in addition to insulin improves vascular smooth muscle function and HbA1c in T1D children over 12 months (1). We aimed to determine if children with T1D who received metformin in a randomized controlled trial (RCT) [Trial registration ACTRN126110001148976] have a sustained vascular function improvement 3 years after ceasing metformi...

hrp0089fc15.1 | Growth and Syndromes | ESPE2018

The Diagnostic Yield of a Targeted Next Generation Sequencing Panel in Children with Short Stature of Undefined Aetiology

Perchard Reena , Murray Philip G , Highton Georgina L , Whatmore Andrew J , Clayton Peter E

Background: Currently, data on the diagnostic yield of targeted gene panels using next generation sequencing (NGS) in children with short stature of undefined aetiology (SSUA) are limited. EPIGROW (ClinicalTrials.gov ID NCT00710307) was a prospective European epidemio-genetic study in which a targeted NGS panel including 69 genes associated with short stature (e.g. primordial growth disorders and skeletal dysplasias) was performed in 263 patients and 263 controls. In these pat...

hrp0089rfc8.5 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

Latest Progress in Tissue Engineered Urethral Regeneration: From Rabbit to Dog, a Step from Human Clinical Trial for Surgical Treatment of VSD (Variation of Sex Development)

Pinnagoda Kalitha , Vythilingam Ganesh , Vardar Elif , Ballet Eva-Maria , Tambidorai CR , Frey Peter , Larsson Hans-Mattias

Introduction: Treatment of patients with VSD (Variation of Sex Development), in particular severe hypospadias, is associated with high rate of post-operative complications using current surgical procedures. This leads to a high rate of re-operation in an already emotionally complicated situation. We improved the tissue engineered acellular tubular collagen scaffolds that showed promising results in the rabbit model to implant it to a dog model. This FDA approved new version ac...

hrp0089p2-p054 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

Effect of Pubertal Inductionn Bone Mass Accrual, in Adolescent Boys with Duchenne Muscular Dystrophy

Zacharin Margaret , Lee Samantha , Taylor Miller Tashunka , Simm Peter , Munns Craig

Background: DMD is an X-linked recessive disorder, due to mutations of the DMD gene on Xp21, encoding dystrophin, characterized by high cytokines and progressive muscle degeneration, with loss of ambulation, increasing immobility and complicated by late cardio-respiratory failure. Use of high dose corticosteroid aims to prolong mobility, delay/reduce complications and to increase lifespan but adverse effects on bone health include bone loss and increased vertebral and long bon...