ESPE Abstracts

Background: GH deficiency (GHD) is classically defined on the basis of a cut-off applied to the peak GH level during stimulation tests; a process with recognised limitations. Identifying the functional role of genes whose expression is associated with pGH may help with our understanding and classification of GHD.Objective and hypotheses: Identify patterns of gene expression (GE) related to pGH and to describe the function, and regulation of these genes.<...

Background: Response to GH treatment has been associated with single nucleotide polymorphisms (SNPs) within the promoter region of growth-related genes including GRB10 (rs1024531 (A/G, allele A increased response)), IGFBP3 (rs3110697 (G/A, G increased response)), CYP19A1 (rs10459592 (T/C, T increased response)) and SOS1 (rs2888586 (G/C, C increased response)). SOS1 is a positive regulator of GH signalling (MAPK pathway); the aromatase CYP19A1 promotes oestrogen synthesis to im...

Background: Prediction of response to recombinant GH (r-GH) is currently based on regression modelling. This approach generates a prediction equation which can be applied to data from an individual child. However this method can underestimate the effect of inter-dependent variables. Random forest classification (RFC) is an alternative prediction method based on decision trees that is not sensitive to the relationships between variables.Objective and hypo...

Background: Hematopoietic stem cell transplantation (HSCT) is associated with severe medical complications and variable outcome depending on the recipient’s disease stage and health condition. As serum-IGF 1 is decreased in patients with severe illness, after major surgery, in malnutrition, and other conditions that cause catabolic metabolism, it may serve as predictive biomarker for transplant outcome.Individuals and Methods: Based...

Introduction: The prevalence of childhood obesity is continuing to increase worldwide and has become a major health concern. There are a number of serious complications to childhood obesity with significant long-term health implications if not managed in a timely matter. These complications include type 2 diabetes mellitus (T2DM), obstructive sleep apnoea (OSA), idiopathic intracranial hypertension (IIH) and non-alcoholic fatty liver disease (NAFLD). At presen...

Aim: We aimed to investigate the growth potential of pituitary microadenomas and cystic lesions < 10mm in children, and to evaluate how reproducible the measurements were on magnetic resonance imaging (MRI).Design: Retrospective observational study.Methods: 74 children were included < 18 years at first pituitary MRI, and diagnosed with a microadenoma (microadenoma producing ACTH, GH or TSH ...

Isolated hypoaldosteronism is a rare cause of salt wasting in infancy and may be life-threatening, especially in the newborn. Isolated aldosterone deficiency results from loss of activity of aldosterone synthase encoded by CYP 11B2 gene. We reported the case of a newborn, who presented at the age of 4 weeks with severe dehydration, vomiting and hypotonia. Blood investigations showed severe hyponatremia, hyperkaliemia and metabolic acidosis. The familial history revealed a firs...

Background: Being born small for gestational age (SGA) is linked with higher systolic blood pressure (SBP). Fetuses with growth restriction (FGR) may be either SGA or appropriate size for gestational age at birth. However, it is not known which factors contributing to size at birth influence the relationship with SBP.Aim: To determine whether antenatal markers of FGR can predict the upper quartile of childhood SBP.<p...

Introduction: Pituitary imaging is important for the evaluation of hypothalamo-pituitary axis defects in patients diagnosed with childhood-onset growth hormone deficiency (CO-GHD). Published evidence shows that there is a close relationship between structural changes in the pituitary gland and growth hormone deficiency.Aim: To evaluate the relationship between clinical, laboratory and magnetic resonance imaging of the pi...

Background: Certain genetic defects in the growth hormone (GH)/insulin-like growth factor 1 (IGF-1) axis are associated with severe primary IGF-1 deficiency (SPIGFD) and short stature. Detection of genetic defects may confirm short stature aetiology alongside clinical/biochemical features. Increlex® is a recombinant human IGF-1 (rhIGF-1) approved for children/adolescents with SPIGFD.Methods: The Increlex<...