ESPE Abstracts

Background: Paediatric HPAT, though generally benign, incurs significant neuro-endocrine morbidity. Their management is unclear and the paediatric neuro-oncology or adult pituitary forum at which they are discussed lack pituitary or age-specific expertise respectively. The UK National HPAT Interest Group has pioneered a monthly, multi-site, interdisciplinary, video conferencing decision-making forum, to garner necessary experience and evidence of outcomes to assist worldwide r...

Background: EuRRECa (European Registries for Rare Endocrine Conditions) is a new project incorporating the development of a core endocrine registry and the development of an e-reporting programme for rare endocrine conditions (e-REC) that are covered within Endo-ERN (https://eurreca.net/e-rec/).Methods: 24 Endo-ERN centres within 12 countries participated in a pilot phase of e-REC...

The structure and design of the ESPE web portal (www.espe-elearning.org) is based on facilitating Problem-Based Learning (PBL). It consists of carefully designed problems that challenge medical students, residents, postdoc’s to use problem solving techniques, self-directed learning strategies and specialty knowledge.The ESPE e-learning web portal is an interactive learning environment for up to date topics in pediatric endocrinology and diabetes co...

Background: For young adults with type 1 diabetes, transition from a paediatric setting to an adult care setting is a vulnerable period with risks for gaps in care. These emerging adults need to develop skills for managing their diabetes yet it is often challenging to cover all anticipatory guidance topics related to type 1 diabetes. In the context of a structured transition clinic, we hypothesized that by leveraging teens’ facility with technology and marketing/design we...

Growth response to daily GH treatment can be predicted using pre-treatment gene expression profiles.1 Once-weekly GH treatment potentially reduces the burden of daily injections2 and thus may be a major advancement in care for patients with GHD, vs standard, daily GH treatment. Here we investigate the prediction of first-year growth response based on pre-treatment blood transcriptome in children with GHD undergoing treatment with daily or once-weekly GH. ...

Background: Cardiometabolic (CM) risk is linked to being small for gestational age (SGA, birthweight <-2SDS). Fetal growth restriction (FGR) may not result in SGA. We focused on potential CM risk in children born following pregnancies at higher risk for FGR.Aims: To identify associations between fetal and childhood weight trajectory quartiles and CM risk markers. 2.To define molecular pathways potentially associated w...

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 ...

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...

Background: GRB10 negatively regulates IGF1 signalling, influences growth and promoter polymorphisms are associated with GH response1. GRB10 knockout-mouse models display foetal overgrowth2, however, the mouse model has only partial similarity to human growth3. There is evidence that the zebrafish is an appropriate model to study growth4 and has the advantage of being easily genetically manipulated.<p class="abs...

Background: The phases of human growth are associated with gene expression (GE) changes1, raising the possibility that rhythmic patterns of GE occur throughout childhood.Objective: In this study, we have assessed time-series patterns of GE profiles associated with age to characterise oscillations.Methods: GE analysis was conducted on cells of lymphoid origin from normal individuals through childhood (n=87, 43 ma...