ESPE Abstracts

Background: In precocious puberty, girls experienced secondary sexual development earlier psychologically as well as physically. Self-stress due to a different body shape from the peer group, psychological concerns due to discrepancies between physical and chronological age, and long-term behavioural problems could occur.Objective and hypotheses: The aim of this study was to evaluate psychosocial changes in girls with precocious puberty between before an...

Background: The gastrointestinal (GI) tract plays a central role in maintaining energy balance and body weight regulation. These functions are mediated by the secretion of gut hormones, including ghrelin, cholecystokinin (CCK), peptide YY(PYY), oxyntomodulin (OXM) and many other hormones. Some of them are orexigenic hormones that promote food intake, while others act as satiety signals and enhance insulin secretion from the pancreatic beta cells. Current evide...

Background: Paediatric pituitary adenomas comprise rare but challenging pathologies in children and adolescents related to their endocrine and neurological characteristics.Objective and Hypotheses: We aimed to describe a case report of growth hormone (GH)-secreting pituitary adenoma apoplexy.Method: a 11-year-old girl presented with fever, sudden headache with vomiting. She abruptl...

Backround: Craniopharingiomas are rare embryogenic malformations of the sellar and parasellar region with slow growth and high local recurrence rate. Due to their unfavorauble location, presurgical hypothalamic involvement and treatment-related hypothalamic damage is frequent and lead to hypothalamic syndrome.Objective: we compare weigh gain and growth pattern regarding to hypothalamic involvement of pediatric patients a...

Background: Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder involving a predisposition to tumor development, etiologically connected with genetic/epigenetic dysregulation. The main features of BWS include omphalocele, macroglossia and macrosomia; however there is significant clinical heterogeneity. SHOX mutation is a frequent cause of short stature with high penetrance, but extremely variable clinical expression. The mean adult height is -2.2 SDS. The presence of m...

Background: AAAS is an autosomal recessive disorder characterized by adrenal insufficiency, alacrimia, achalasia and neurological symptoms. The disease-causing AAAS gene encodes for the ALADIN nuclear pore protein.Case presentation: Case 1: A girl (born to unrelated parents) presented at age 3.9 years with fatigue and hyperpigmented skin. Clinical examination was normal, clumsy gait was noted. Endocrine studies confirmed adrenal insufficiency (F=9 mg/ml,...

Context: The response to lifestyle modification (LSM) in children with obesity is variable and difficult to predict.Aim: A systematic search for molecular markers to predict outcomes of LSM in pediatric obesity management.Patients/Methods: Out of 240 children with obesity (BMI>97%) recruited to a prospective ‘multi-OMICS’ study granted by ESPE Research Unit, 159 subj...

Background and Aim: Several genetic variants associating with hepatic fat content in adults have been identified in genome-wide association studies. Their effects in children remain unclear. This study aimed to test the effect of genetic variants known to associate with hepatic fat in adults, individually and combined as a genetic risk score (GRS), on cardiometabolic traits, and to investigate the predictive ability of the GRS for hepatic steatosis in children...

Context: The response to lifestyle modification (LSM) in children with obesity is variable and difficult to predict.Aim: A systematic search for identifying common single nucleotide polymorphisms (SNPs) to predict positive outcomes of LSM in pediatric obesity management, defined as decrease in BMI z-score (based on IOTF).Patients/Methods: Out of 240 children with obesity (BMI>97...

Introduction: Graves’ Disease (GD) is autoimmune hyperthyroidism occurring mostly in adolescent girls. The main pathogenic role of the disease is attributed to TSH receptor antibodies (TRAb), which stimulate the thyroid gland to increase the production of the most active thyroid hormone- triiodothyronine (T3). High levels of TRAb and a large goitre size are commonly known as poor prognostic factors for the disease and are used to predict relapse.<p c...