ESPE Abstracts

Background: Cystic fibrosis-related diabetes (CFRD) is a common complication in cystic fibrosis (CF). CFRD symptoms and treatment may impose additional burden and adversely affect their QoL.Objective and hypotheses: Assess HRQoL in CF children with normal glycaemia (CFN) and CFRD and evaluate the change in HRQoL over 1 year period along with clinical changes.Method: A prospective study was undertaken including children aged 10&#150...

Background: Crohn’s disease is a relapsing systemic inflammatory disorder with inflammatory bowel disease (IBD) due to up-regulation of pro-inflammatory cytokines including TNFα. More than 80% of newly diagnosed children present with growth failure Paediatric gastroenterology units in the UK submit data to the UK IBD database which can be accessed when required. One aim of current treatment protocols is to promote growth. Studies on the use of anti-TNFα antibodi...

Background: Excess adiposity may influence various aspects of pubertal development, including the timing of pubertal initiation and hormonal parameters during puberty.Objective and hypotheses: The aim of this study was to clarify the impact of BMI on LH secretion in response to GnRH stimulation test in girls diagnosed with central precocious puberty.Method: Girls with central precocious puberty, who underwent GnRH-stimulation test ...

Background: The noncoding RNA growth-arrest-specific transcript 5 (Gas5) is abundant in cells whose growth has been arrested owing to lack of nutrients or growth factors. Gas5 is a riborepressor of the glucocorticoid receptor, influencing cell survival and metabolic activities during starvation by inhibiting the latter’s transcriptional activity.Aim: To determine the expression levels of Gas5 in blood samples of obese, overweight and lean children a...

Background: Disruption of homeostatic functioning of the hypothalamic centres results in hyperphagia, autonomic imbalance, reduction of energy expenditure, and hyperinsulinemia. A syndrome of rapid, unrelenting weight gain is often observed in patients with structural lesions of the hypothalamus. Hypothalamic obesity syndrome (HOS) is often refractory to standard dietary and lifestyle interventions. It has been reported that metformin induces anorectic effects via an increase ...

Background: Macroprolactinomas in children below 10 years of age are rare. Usually prolactinomas respond well to dopamine agonists so that neurosurgical resection is rarely necessary. For non-responders to dopamine agonist therapy other extended treatment options have to be considered.Clinical case: We report a 14-year-old boy who presented at the age of 11 years with headaches for 5 years and progressive bilateral vision problems. The diagnosis of a mac...

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare disorder of neonatal salt loss unresponsive to mineralocorticoids, requiring salt supplementation. It results from resistance of kidney and/or other tissues to mineralocorticoids, arising from mutations in genes encoding mineralocorticoid receptor (MR: NR3C2; autosomal dominant), or epithelial sodium channel (ENaC) genes (SCNN1A/B/G; autosomal recessive). Milder clinical phenotype associates with ren...

Background: The prevalence of obesity has increased dramatically in Greece in the last decades, and more than 30% of children and adolescents are currently overweight or obese. Obesity is associated with decreased circulating 25-hydroxyvitamin D concentrations, which might predispose to metabolic syndrome and cardiovascular morbidity and mortality.Objective and hypotheses: To determine serum 25-hydroxyvitamin D concentrations and their relationship to ca...

Background: Biologic therapy may improve bone health, body composition, and muscle function in children with inflammatory bowel disease but the extent of improvement are unclear.Objective and hypotheses: To evaluate bone and muscle mass in children with inflammatory bowel disease (IBD) following infliximab (IFX) therapy.Method: Prospective longitudinal study of 19 children (12M), 17 Crohn’s disease (CD), one ulcerative colitis...

Background: Primary generalised glucocorticoid resistance (PGGR) is a rare condition characterised by tissue insensitivity to glucocorticoids owing to inactivating mutations of the hGR gene. A new case of PGGR was reported in a patient with an adrenal incidentaloma harboring a novel heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 of the receptor.Objec...