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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

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Growth: Clinical

hrp0086fc8.1 | Growth: Clinical | ESPE2016

Transcriptomics and Machine Learning Methods Accurately Predict Diagnosis and Severity of Childhood Growth Hormone Deficiency

Murray Philip , Stevens Adam , Koledova Ekaterina , Chatelain Pierre , Clayton Peter

Background: The diagnosis of Growth Hormone Deficiency (GHD) involves the use of GH stimulation tests that require day case admission, multiple blood sampling and are associated with significant adverse effects.Aim: To assess the utility of gene expression (GE) profiling and candidate SNP analysis for the diagnosis of and classification of GHD.Method: Pre-pubertal treatment-naïve children with GHD (n=98) were enrolled from the...

hrp0086fc8.2 | Growth: Clinical | ESPE2016

Whole Exome Sequencing can Identify Defects not Detected by Candidate Gene Sequencing in Patients with Short Stature and Features of Growth Hormone Insensitivity (GHI)

Shapiro Lucy , Savage Martin , Davies Kate , Metherell Lou , Storr Helen

Background: GH insensitivity (GHI) encompasses growth failure, low serum IGF-1 and normal/elevated serum growth hormone (GH) (basal level >5 μg/L and/or peak on provocation testing >10 μg/L). In a significant number of children the molecular cause is unknown.Objective: To investigate the genetic etiology of GHI in a cohort of children by candidate gene (CGS) and whole exome (WES) sequencing.Methods: About 109 pati...

hrp0086fc8.3 | Growth: Clinical | ESPE2016

PAPP-A2 Gene Mutation Effects on Glucose Metabolism and Bone Mineral Density and Response to Therapy with Recombinant Human IGF-I

Salcedo Catalina Cabrera , Hwa Vivian , Tyzinski Leah , Andrew Melissa , Wasserman Halley , Backeljauw Philippe , Dauber Andrew

Background: PAPP-A2 (pregnancy-associated plasma protein A2) deficiency, caused by homozygous mutations in the PAPP-A2 gene results in a novel syndrome of significant growth failure. PAPP-A2 cleaves IGF binding proteins 3 and 5, thereby freeing IGF-I from its ternary complex and allowing it to become biologically active. We recently reported the first two families with PAPP-A2 mutations. Response to recombinant human IGF-I (rhIGF-1) in these patients is unknown.<p class="a...

hrp0086fc8.4 | Growth: Clinical | ESPE2016

Genetic Insights from Children with Idiopathic Short Stature in the EPIGROW Study

Perchard Reena , Murray Philip , Payton Anthony , Clayton Peter

Background: EPIGROW was a prospective European epidemio-genetic study in children with idiopathic short stature (ISS).Objectives: To identify (1) differences in frequencies of single nucleotide polymorphisms (SNPs) in growth related genes between ISS children and controls, and (2) associations between growth characteristics, IGF status and SNPs in these genes.Methods: Sequence data from EPIGROW was used to determine the difference ...

hrp0086fc8.5 | Growth: Clinical | ESPE2016

Longitudinal Study on Body Composition, Insulin Sensitivity and β-cell Function in SGA Adults from Stop of Long-term GH Treatment until 5 Years after Stop

van der Steen Manouk , Kerkhof Gerthe F. , Hokken-Koelega Anita C.S.

Background: GH treatment results in a decrease in fat mass (FM) and insulin sensitivity (Si), and an increase in lean body mass (LBM). Only limited data are available on the longitudinal changes after discontinuation of GH treatment in SGA adults, aged 21 years.Objective and hypotheses: To assess longitudinal changes in body composition (BC) and glucose homeostasis after stop of GH treatment in SGA adults.Method: 197 previously GH-...

hrp0086fc8.6 | Growth: Clinical | ESPE2016

Birth Characteristics Explain One Third of Expected Deaths in rhGH-treated Patients Diagnosed with IGHD, ISS & SGA

Albertsson-Wikland Kerstin , Martensson Anton , Savendahl Lars , Niklasson Aimon , Bang Peter , Dahlgren Jovanna , Gustafsson Jan , Kristrom Berit , Norgren Svante , Pehrsson Nils-Gunnar , Oden Anders

Background: That mortality is not increased in rhGH-treated patients when adjusting for birth characteristics was recently published (1). When applying a developed mortality model of the general population, the observed and expected deaths in rhGH-treated IGHD, ISS and SGA patients (n=3847) where 21 and 21.99, respectively. The model includes gender, age, calendar year, gestational age (GA), birth lengthSDS (BLSDS), birth weightSDS (BW...