ESPE Abstracts

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...

Introduction: Intracranial germ cell tumors (GCTs) are rare and likely to present with peripheral precocious puberty (PPP). We report the case of a 5-year-old boy with pineal GCT, in whom, although he presented with advanced peripheral precocious puberty, levels of β-chorionic gonadotropin (β-HCG) were mildly elevated, not diagnostic of GCT, posing a diagnostic dilemma.Methods: A 53/12 year- old boy ...

Background: Chronic stress and increased adiposity have been associated with each other in children. Further studies are needed, however, to evaluate both the directionality of this association and the mediating metabolic mechanisms.Objective and hypotheses: This study investigates the interrelations between BMI, body composition parameters, indices of the stress response, such as hair and salivary cortisol levels, and, metabolic mediators, such as insul...

Background: The term Congenital Hypothyroidism (CH) describes children with subnormal thyroid hormone levels present at birth. According to literature, CH has an incidence of ~1:1500–1:3000 births with a clear predominance of females (female:male ratio 2:1) and is mainly caused by thyroid dysgenesis (80%). Low FT4 levels have been used as important criteria for CH diagnosis and treatment initiation. The Greek neonatal CH screening program has followed the TSH cut-off lowe...

Background: In vitro fertilisation (IVF) has been widely used during the last decades. Increased susceptibility to birth defects and a higher cardiometabolic risk in children born after IVF than naturally conceived (NC) children have been reported. Also, a higher incidence of hyperthyrotropinemia has been noted in children born after IVF with respect to NC children and has been attributed to an epigenetic modification of the TSH set-point.Object...

Background: Little data exist regarding the hypothalamic-pituitary-adrenal (HPA) axis activation and the interplay between the HPA axis and markers of pro- and anti-oxidation in children, following an acute aerobic exercise bout in children.Objective and hypotheses: To investigate the changes of HPA axis hormones following an acute bout of aerobic exercise and their respective association with markers of pro- and anti- oxidation in normal weight and obes...

Introduction: Thyroid hormone resistance (THR) is a rare disease (≈ 1/50000) mainly due to thyroid hormone receptor beta gene (THRB) mutations, generally identified in late childhood and adulthood. We report 2 atypical cases of neonatal diagnosis of THR.Case 1: The newborn presented with neonatal respiratory distress due to a voluminous compressive goiter, requiring invasive ventilation. Thyroid function test...

Background and Purpose: Previous studies have shown differences in serum, plasma, or saliva proteomics profile in patients with type 1 diabetes mellitus (T1DM), compared with healthy controls. The purpose of this prospective study is to identify the tear proteomics profile in children with T1DM that are followed at the Diabetes Center of the First Department of Pediatrics of the National and Kapodistrian University of Athens, at “Aghia Sophia” Chil...

Background: Puberty onset results from the interplay between genetic and environmental factors. During COVID-19 pandemic, children experienced epidemic-related changes, such as stress, sedentary lifestyle, excessive use of electronic devices, all leading to weight gain.Objective: The aim of our study is to retrospectively evaluate the incidence of premature activation of the hypothalamic-pituitary-gonadal axis, as eviden...

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...