ESPE Abstracts

Background: DICER1 is an endoribonuclease that acts post-transcriptionally by processing mRNA into siRNA and microRNA, thus leading to mRNA downregulation. DICER1 syndrome is usually caused by germline variants and is characterized by a variety of benign or malignant tumors: pleuropulmonary blastoma, ovarian Sertoli-Leydig cell tumor, cystic nephroma, pituitary blastoma and multinodular goitre. Patients with germline aberrations in the DICER1 gene may carry additional...

Background: The ability to respond to stress constitutes a defensive protective mechanism; both inadequate and excessive responses may be detrimental.Objective and hypotheses: To investigate the effect of increased body weight on the hormonal response to stress in children. Scheduled surgical procedures include two stressful parts, a psychological one (anticipation of operation) and a biological one (surgical stress per se) and were chosen as a study mod...

Background: Obesity in childhood and adolescence represents a major health problem of our century and accounts for a significant increase in morbidity and mortality in adulthood. In Greece, more than 35% of children and adolescents are currently overweight or obese.Objective and hypotheses: To develop a National e-Health System for General Pediatricians and General Practitioners for the prevention and management of overweight and obesity. Specific aims i...

Background: Since the initiation of neonatal screening-programs for congenital hypothyroidism (CH) in the 1970’s, an increase in the incidence of CH has been observed. This change has been attributed to the gradual use of lower TSH cut-offs that lead to the detection of milder cases of CH. Based on currently used screening cut-offs, CH occurs in approximately 1:2 000 to 1:4 000 newborns, varying by geographic location and ethnicity. A female predominance, approaching a 2:...

Background: The association of GH deficiency (GHD) with central precocious puberty (CPP) has been reported in individuals with central nervous system (CNS) abnormalities, congenital or acquired. Co-existence of GHD and CPP has been rarely reported, always as an isolated, sporadic disorder.Objective and hypotheses: To present the familial occurrence of combined GHD and CPP.Method: GH was measured post L DOPA, glucagon and GHRH and g...

Background: Prader–Willi syndrome (PWS) has a relative hypoinsulinemia and a lower insulin resistance than non-PWS subjects. Mostly on the basis of such higher insulin sensitivity, PWS subjects have been hypothesized to be at lower risk of non-alcoholic fatty liver disease (NAFLD).Objective and hypotheses: In this cross-sectional study, we analyzed the presence and the severity of NAFLD in a group of PWS children compared to matched pairs.<p cla...

Background: A variable prevalence of scoliosis has been reported in Prader–Willi syndrome (PWS). Clinical detection can be challenging. The role of GH therapy (GHT) in the onset and progression of scoliosis remains controversial as does the modality of screening.Objective and hypotheses: To define the prevalence of scoliosis in our PWS patients and analyse the role of age, gender, genotype, BMI, and GHT on its onset and severity.<p class="abstex...

Background: Distal chromosome 16 duplication syndrome, also known as 16q partial trisomy, is a very rare genetic disorder. Smaller chromosomal copy number variants (CNVs) within the 16q region create partial trisomies, which occur less frequently than full trisomy 16q. Trisomy 16q is generally associated with a multisystemic phenotype including intrauterine growth restriction (IUGR), brain and cardiac defects, intellectual disability and an increased risk of b...

Background: Children and adults with chronic thyroid disorders (TD) need continuous monitoring as periods of inadequate thyroid hormone substitution can impact metabolism, puberty and fertility. Transition from pediatric to adult-oriented care is often characterized by discontinuity in care resulting in poor health outcomes and impaired quality of life. Transition care (TC) for young adults with TD remains largely unknown.Objecti...

Introduction: The envelope protein of Human Endogenous Retrovirus type W (HERV-W-Env) has been shown to be associated with type 1 diabetes (T1D) pathogenesis in adults patients. This protein is expressed in pancreas of T1D patients and it seems to correlate with macrophage infiltrations. In vitro and in vivo studies have demonstrated that HERV-W-Env inhibits insulin secretion and promotes hyperglycemia. Furthermore, HERV could be implicated in other auto-immune disorders. The ...