Endocrine Abstracts

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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...

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...

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...

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...

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...

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 > ...

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...

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...

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...