ESPE Abstracts

Background: Patients with congenital adrenal hyperplasia (CAH) are glucocorticoid deficient and require cortisol replacement to maintain homeostasis and prevent adrenal crises. Hydrocortisone dosing needs to be individualized because of variable cortisol clearance rates. Patients are thus prone to be either over or undertreated, both of which compromises final height.Objective and hypotheses: Performing 24-h cortisol profiling serially may allow for more...

Background: X-Linked hypophosphatemic rickets (XLH) is a disorder of phosphate homeostasis, characterized by renal phosphate wasting and hypophosphatemia, with normal to low 1,25-dihydroxy vitamin D3 serum levels. PHEX is the gene defective in XLH and different mutations and genomic rearrangements have been described in different families affected by this disease.Objectives: To detect inactivating mutations in the PHEX g...

Background: Insulin resistance (IR) plays a key role in the pathogenesis of type 2 diabetes (T2D). In neurologically impaired (NI) children unfavorable cardio-metabolic risk profile with high prevalence of IR has been reported. We evaluated the prevalence of T2D in NI children and adolescents, in order to define if a dedicated glucose monitoring may be recommended in these subjects.Patients and Methods: We retrospectivel...

GH and IGF1 regulate cell proliferation, differentiation and apoptosis playing a key role in growth, and leading to consider potential oncogenic effects of GH. To evaluate possible oncogenic risks in GHD patients who underwent GH replacement therapy, the SAGhE consortium was created. The data collected have not yielded definite conclusions and continuous surveillance is yet required. MiRNAs are regulators of gene expression, and are involved in many biological processes. We ai...

The growth response in patients undergoing GH treatment is variable depending both on the patient's basal conditions and on personal innate sensitivity to therapy. MicroRNAs (miRNAs) are epigenetic regulators of gene expression, and are recognised as important regulators of biological and metabolic processes. It is unknown at present whether miRNAs could be early biomarkers of response to GH treatment in a perspective of individualised medicine, and whether they could disc...

Introduction: Childhood obesity and insulin resistance (IR) are rising in prevalence, increasing the future adults' cardio-metabolic risk. One of the potential mechanisms behind these alterations is oxidative stress, fruit of increased free radical production and diminished antioxidant defense. Although low plasma vitamin concentrations and oxidative stress have been observed to be associated with obesity in adults and children, their association with IR i...

Background: Insulin resistance precedes metabolic syndrome abnormalities, and may promote cardiovascular disease and type 2 diabetes in obese children. Lifestyle modification programs have been proposed as the gold standard of care in these individuals. However, results have been discouraging and the use of adjuvant strategies has been necessary. Metformin has beneficial effects on weight reduction, favoring a decrease in body mass index (BMI) and insulin resistance in obese n...

Background: Craniopharyngiomas are the commonest pituitary tumours of childhood. Though benign histologically, their localisation and invasive tendency can cause significant neuroendocrine morbidity and late mortality.Objective and hypotheses: To prospectively determine risk factors for neuroendocrine morbidity by longitudinal survival analysis.Method: All children with craniopharyngioma newly presenting to our quaternary centre be...

Background: CREB-regulated transcription coactivator 3 (CRTC3) is found in adipocytes where it may promote obesity through disruption of catecholamine signaling. CRTC3 knockout mice are resistant to diet-induced obesity.Objective and Hypotheses: The goals of the present study were i) to assess whether CRTC3 is a soluble protein secreted by adipose tissue ii) to explore whether CRTC3 is detectable and quantifiable in the circulation, and iii) to ...

Background: Postoperative effect of music listening has not been established in pediatric age.Objective and hypotheses: The purpose of this study is to better understand the benefits of music on postoperative distress and pain in Pediatric Day Care Surgery.Methods: Forty-two children admitted for minor or intermediate surgery, were enrolled in this study. Patients were randomly assigned to the ‘music-group’ (music interve...