ESPE Abstracts

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: Pediatric growth hormone deficiency (pGHD) is associated with growth attenuation/deceleration, short stature, delayed bone maturation, and metabolic defects. Daily recombinant human growth hormone (rhGH) treatment promotes linear growth and increases growth rate; however, it may present a substantial burden for patients and caregivers. This may lead to low adherence, limiting the clinical effect of treatment. This study assesses the health-related ...

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...

Introduction: Neutropenia is known as a rare adverse event of anti-thyroid drug treatment (ATD) but has also been reported as pre-treatment neutropenia in Graves’ disease (GD). Studies on paediatric patients are rare. To the best of our knowledge, there are no data comparing the effects of methimazole (MMI) and carbimazole (CBZ) treatment in children on the absolute neutrophil count (ANC).Methods: We analyzed retro...

Purpose: Artificial intelligence (AI) is increasingly used for medical imaging procedures, including automated bone age (BA) evaluation. We aimed to evaluate the agreement between two different BA methods, the IB lab PANDA® and BoneXpert® artificial intelligence methods vs. the manual reference rating in children for BA determination, and to compare the IB lab PANDA performance to the BoneXpert method.<stron...

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...

Pediatric growth hormone deficiency (pGHD) is a rare disorder characterized by inadequate growth hormone secretion. Recombinant human growth hormone (rhGH) is the current standard of care; however, daily injections may represent a burden to patients and caregivers, affecting patients’ health-related quality of life (HRQoL). This study evaluated the HRQoL of Greek patients receiving daily rhGH, and the burden of patients and caregivers. This cross-sectional study enrolled...

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: Smartphones are becoming increasingly popular and powerful across the globe, which, in turn, has provided unforeseen opportunities in the digital health space. The increased capabilities of smartphones have allowed the incorporation of Augmented Reality (AR) capabilities that merge input from their cameras with additional, augmented annotations and representations. While there has been research on the use of AR in managing paediatric diabetes,1 to ...

Background: A total of 456 skeletal dysplasias have been classified by molecular, biochemical and/or radiological criteria, into 40 groups. Despite this, the precise, final diagnosis is often difficult due to the high phenotypic and genotypic variability.Objective: To improve the molecular and clinical diagnosis of skeletal dysplasias using a custom-designed next-generation sequencing (NGS) panel.Method: A total of 56 skeletal dysp...