ESPE Abstracts

Background/aim: Congenital hyperinsulinism (CHI) is a group of genetic disorders characterized by impaired insulin secretion, resulting in recurrent hypoglycemia. CHI is the most common cause of severe and persistent hypoglycemia in infancy and childhood that is associated with an increased risk of seizures, developmental delay and permanent brain damage, with lifelong neurodisability if treatment is delayed. The incidence of CHI is estimated to be approximate...

Background/Aim: Congenital hyperinsulinism (CHI) is a group of genetic disorders characterized by impaired insulin secretion, resulting in recurrent hypoglycaemia. Aim of this study is to investigate the proteomic profile in tear samples in children and adolescents with congenital hyperinsulinism who are treated and followed up at our Division. The tears’ proteomic profile will be correlated with the clinical presentation and laboratory data of the patie...

Background: Obesity in childhood and adolescence represents a major health problem and its management requires a multidisciplinary approach.Objective and hypotheses: To assess the main eating habits of children and adolescents attending an Out-patient Clinic for the Prevention and Management of Overweight and Obesity in Greece, as recorded before implementing any intervention.Method: We studied 1005 children and adolescents [age ra...

Background: Psychosocial factors are important for patients with chronic diseases such as type 1 diabetes. Lack of social network and poor social support are risk factors that affect morbidity. Little is known about social network and social integration of families with children with type 1 diabetes.Objective and hypotheses: Aim was to explore the social network of families with young children with type 1 diabetes and to examine associations between indi...

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: Treatment of children with classic congenital adrenal hyperplasia (CAH) is a difficult balance between hypercortisolism and hyperandrogenism. Biochemical monitoring of treatment is not well defined.Objective: Retrospective software-assisted analysis of urinary steroid metabolome analysis obtained by gas chromatography-mass spectrometry (GC-MS) for treatment monitoring of children with CAH.<p class="abstex...

Background: Autoimmune primary adrenal insufficiency (PAI) is a rare and life-threatening disease. Standard replacement therapy consists of multiple daily doses of hydrocortisone combined with fludrocortisone. A recent Endocrine Society guideline argued against hormonal monitoring of glucocorticoid replacement. However, about 50% of adolescents and young adults (AYAs) with chronic diseases are non-adherent to their prescribed treatment regimens. Pervasive nonadherence places p...

Background: Molecular defects are rarely detected in Premature ovarian insufficiency (POI) patients.Objective and Hypotheses: We hypothesized that the frequency of causative molecular defects could be higher in cases with early onset of POI. Moreover, the analysis of multiple genes in the same POI group could disclose co-existence of more than one molecular aberration.Method: In 25 subjects, aged 17.1±7 years at POI onset, bid...

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...

Objective: Cluster analysis of urinary steroid metabolome analysis obtained by gas chromatography-mass spectrometry (GC-MS) for treatment monitoring of infants with classic salt-wasting CAH. Methods: We evaluated metabolome analysis of spot urine samples of 60 young children ≤4 years of age (29 females) with classic CAH due to 21-hydroxylase deficiency treated with hydrocortisone and fludrocortisone. Subjects were divide...