ESPE Abstracts

Background: Growth hormone insensitivity (GHI) encompasses normal/elevated growth hormone (GH), low IGF-I levels and growth restriction. Non-classical/mild-moderate GHI is an emerging entity which is poorly characterised, and, in many subjects, the underlying cause is unclear. Heterozygous dominant negative (DN) variants located in the intracellular/transmembrane domain of the GH receptor (GHR) cause a ‘non-classical’ GHI phenotype.<p class="abst...

Background: Glycaemic control is adversely affected by family conflict derived from the psychological impact of the disease upon parents.Objective and hypotheses: To identify parental psychological stressors and thus interventions deemed useful to provide parental support.Method: 252 diabetic children were identified and PIP questionnaires were sent to each household to assess parental stress. Two parental focus groups were held to...

Background: While GH therapy forms the mainstay of growth promoting treatment for Turner syndrome (TS), adjunctive use of oxandrolone and optimal timing of pubertal induction remain controversial. The previously published interim analysis of this randomised double-blind placebo-controlled trial demonstrated that oxandrolone and pubertal induction at 14y vs 12y significantly increased final height. However, these effects were not additive.Objective: To up...

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...

Background: The Easypod Connect Observational Study (ECOS) observational study follows children with GHD, SGA and Turner syndrome receiving r-hGH therapy for up to 5 years, with interim analyses each year. The easypod electromechanical auto-injector device enables accurate, real-world digital records of patients’ adherence to rhGH to be collected for evaluation.Objective and hypotheses: The primary objective of ECOS is to evaluate the level of adher...

Background: The post-authorisation registry, European Increlex® Growth Forum Database (EU-IGFD), initiated in December 2008, collects data in children receiving Increlex (mecasermin (rDNA origin) injection) for growth failure, including Laron syndrome (LS) (severe primary IGF1 deficiency with confirmed GH-receptor mutation).Objective and hypotheses: Report safety and effectiveness data in children with LS.Method: Multicentre, ...

Background: Whilst adhering to the highest standards of data governance and security, the International DSD Registry (www.i-dsd.org) and the International CAH Registry (www.i-cah.org) allow standardised collection of data and promote multicentre collaboration across national boundaries and across multiple clinical and research disciplines.Results: By April 2015, over 1600 cases had bee...

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. ...

The leptin melanocortin signaling pathway plays a pivotal role in body weight regulation within the hypothalamus. Gene mutations within this cascade are leading to early onset obesity and severe hyperphagia in rodents and humans. For the affected patients it is extremely difficult to stabilize body weight based on the persisting hunger feeling. Traditional treatment options (increased exercise, reduced caloric intake) are not effective in most cases. Therefore, there is a need...

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