ESPE Abstracts

Background: Child growth is a dynamic process and influenced by various environmental factors. When measured at short intervals, growth of healthy children shows certain characteristic patterns, which have rarely been studied, but are of great importance for clinical purposes. The study was approved by the Ethical Committee of the University of Potsdam.Aim: To see whether measurements of height using photographic display...

Background: The BoneXpert method is an automated determination of bone age, which employs deformable models of each bone to locate the bones, and extracts the component of the bone appearance related to maturity in a holistic, statistical manner. The BoneXpert has been validated on normal children and children with diagnoses typical of pediatric endocrinology. Multiple clinical studies suggested that BoneXpert has adequate accuracy, precision, and efficiency to be clinically u...

Background: Alagille syndrome (ALGS) is an autosomal dominant genetic disorder, with highly variable phenotype affecting multiple organs. Commonly presents in infancy or early childhood as cholestasis. Mutations in the notch signaling pathway ligand (JAG1) or its receptor (NOTCH2) lead to ALGS. This pathway is important for the pancreatic development. However,no cases of ALGS with Congenital Hyperinsulinism (CHI) have been reported to date.<p class="abste...

Background: Studies have suggested that sirolimus might be diabetogenic, mostly in kidney transplant recipients. Sirolimus has now been shown to be effective in the management of patients with congenital hyperinsulinism (CHI). However to date, there are no publications regarding the diabetogenic effect of Sirolimus in CHI patients.Objective and hypotheses: To report the first case of sirolimus precipitating diabetes in a CHI patient with known genetic mu...

Background: The usefulness of corticotrophin (ACTH) test in diagnosis of 21-hydroxylase deficiency and/or other enzymic defects in children and adolescents with serum levels of 17-OHP (before 2000 h) >2 ng/ml is known.Objective and hypotheses: To evaluate the usefulness of ACTH test in diagnosis of non-classical congenital adrenal hyperplasia (NCCAH) and heterozygosity of CYP21 gene molecular defects in children and adolescents with clinical hyperand...

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...