Searchable abstracts of presentations at key conferences in endocrinology

ea0025mte1 | (1) | SFEBES2011

Abnormal growth and puberty presenting in late adolescence

Clayton Peter

Young people in their late teenage years may present to either paediatric or adult endocrine clinics with abnormal growth (usually as short stature and/or recognition of slowing growth) and delayed or absent puberty. Anxieties about growth potential may be very significant, and the lack of puberty may blight social interactions and markedly reduce self-esteem.Although constitutional delay in growth and puberty is the most common diagnosis for this type o...

ea0016s15.4 | GH treatment of syndromic short stature - facts and myths | ECE2008

Consensus on GH Treatment in SGA

Clayton Peter

In 2006, the International Paediatric Endocrine Societies and the GH Research Society convened a meeting to consider the management of the SGA child through to adulthood. This included consideration of strategies for management of the short SGA child who has failed to show catch-up growth. The following statements relate to the outcomes of this meeting.Short children born SGA form a heterogeneous group with various aetiologies and treatment should be pre...

ea0034p161 | Growth and development | SFEBES2014

CUL7, OBSL1 and CCDC8 modulate alternative splicing of exon 11 of the insulin receptor gene

Hanson Daniel , Black Graeme , Clayton Peter

Background: The insulin receptor (INSR) is alternatively spliced in a developmental and tissue specific manner into two isoforms, IR-A and IR-B. IR-A excludes exon 11 and is widely expressed whereas IR-B includes exon 11 and is expressed in insulin sensitive tissues. The severe short stature disorder 3-M syndrome is caused by mutations in CUL7, OBSL1 and CCDC8 and we have recently associated these proteins with the major mRNA splicing pathways includ...

ea0028oc5.2 | Growth, tumours and pituitary | SFEBES2012

A network analysis of gene expression through childhood highlights changes related to age and growth

Stevens Adam , Whatmore Andrew , Clayton Peter

Objective: To assess age- and growth-dependent gene expression in children and correlate this with biological pathways.Methods: We conducted a gene expression meta-analysis on datasets from normal children curated from the NCBI Gene Expression Omnibus (GEO). Four datasets were combined to form a group of 87 individuals ranging from 0.2 to 29.3 years of age (average 7.7±6.9yr). Analysis of gene expression data was performed using hierarchical cluster...

ea0051oc4.8 | Oral Communications 4 | BSPED2017

Impact of risk factors for Fetal Growth Restriction (FGR) on intrauterine growth and birthweight

Perchard Reena , Higgins Lucy , Johnstone Edward , Clayton Peter

Background: Abnormal uterine artery Doppler (UtAD) at 23 weeks is considered to be a risk factor for FGR. However, the incidence of being born small for gestational age (SGA) in those with abnormal Doppler is not defined.Aims: 1. To determine the incidence of birthweight<2nd centile (BW<C2nd) in pregnancies at high risk of FGR.2. To determine the effect of specific antenatal FGR risk factors on fetal growth traje...

ea0066oc4.1 | Oral Communications 4 | BSPED2019

Mortality after childhood growth hormone treatment in the UK – the SAGhE study

Cooke Rosie , Swerdlow Anthony , Clayton Peter , Tollerfield Sally , Butler Gary

Background: Recombinant human growth hormone (r-hGH) has been used for more than 30 years and indications for r-hGH have multiplied worldwide. There has been concern that it might raise mortality, but published data are limited.Methods: The cohort comprised of 3902 UK patients over 18 years of age in 2009, treated with childhood r-hGH at all the major UK growth centres. The total European cohort was 24 232 from eight countries (including the UK), with > ...

ea0036P74 | (1) | BSPED2014

Impaired insulin and IGF2 signalling in the primordial growth disorder 3-M syndrome

Kallampallil Jins , Acimovic Ksenija , Hanson Daniel , Whatmore Andrew , Clayton Peter

Introduction: 3-M syndrome is associated with mutations in CUL7, OBSL1 and CCDC8 with the three proteins interacting within a novel growth pathway. The impact of this pathway on cellular growth has not been fully defined. We have shown that i) GH and IGF1 signalling are altered; ii) IGF2 expression is reduced and iii) expression of insulin receptor isoforms are altered in 3-M fibroblasts.Aim: To characterise the activa...

ea0058oc4.2 | Oral Communications 4 | BSPED2018

Gene expression signatures in children with growth hormone deficiency (GHD) and Turner syndrome (TS) predict response to growth hormone

Clayton Peter , Stevens Adam , Murray Philip , Garner Terence

Background: Recombinant human growth hormone (r-hGH) is the primary therapeutic agent for disorders of growth including growth hormone deficiency (GHD) and Turner syndrome (TS). There is a high cost associated with treatment and existing methods to predict response (and hence alter management) can only account for 40–60% of the variance.Methods: GHD (n=71) and TS patients (n=43) were recruited as part of a study (PREDICT) on the lo...

ea0034p164 | Growth and development | SFEBES2014

Distinct gene expression is associated with epigenetic and growth-related network modules in relation to gender differences in the timing of the pubertal growth spurt

De Leonibus Chiara , Chatelain Pierre , Clayton Peter , Stevens Adam

Background: The return to active long bone growth in puberty is a distinctly human event1 and occurs ~2 years earlier in girls compared to boys. Evolutionarily conserved networks of genes are associated with the developmental phases of childhood in multiple tissues2, implying the existence of a genetic program that controls the pubertal return to growth.Objectives: To identify biological functions associated with gender and age-rela...