ESPE Abstracts

Introduction: Noonan syndrome (NS) and Turner syndrome (TS) are distinct genetic disorders with similarities in phenotype, including short stature. The NordiNet® IOS and the ANSWER Program® are observational studies evaluating effectiveness and safety of GH treatment in real-world practice.Methods: The study population included children with NS or TS with puberty recordings, enrolled in NordiNet® IOS or ANS...

Background: Pituitary gigantism is a rare condition that occurs due to excessive GH secretion during childhood, usually associated with a pituitary adenoma. We describe a case that required the full spectrum of standard therapeutic options available.Case report: A 15-year-old boy presented with a 3-year history of intractable occipital headaches and being psychologically distressed by his tall stature (203 cm). He had mild clinical features of GH excess....

Background: The hypothalamic leptin–melanocortin signalling pathway is a critical regulator of human appetite and weight regulation. Monogenetic defects in the POMC gene, the MSH ligand generating PC1 gene and the MSH receptor gene MC4R lead to severe early onset and leptin-resistant obesity. In PWS, where the function of genes such as MAGEL2 are impaired, the Magel2-/- mouse model revealed decreased POMC neuronal functioning as one c...

Background: Single nucleotide polymorphisms (SNPs) associated with the response to GH therapy have previously been identified in growth hormone deficient (GHD) children in the PREDICT long-term follow-up (LTFU) study (NCT00699855).Objective and hypotheses: To assess the effect of GHD severity on the predictive value of genetic markers of growth response.Method: We used pre-pubertal GHD children (peak GH <10 μg/l) from the ...

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 ...