ESPE Abstracts

Background: Although isolated GH deficiency (IGHD) is one of the most frequent causes of postnatal proportional undergrowth, up to 85–90% of IGHD cases are still classified as idiopathic. On the other hand, previous reports identified up to 40 different GH1 proximal promoter haplotypes, some of which show hypomorphic effects, significantly reducing GH1 expression levels.Objective and hypotheses: To investigate the frequency of ...

Background: This multi-country study, conducted in the USA, is also ongoing in France, Germany, Brazil and South Korea (52 healthcare professionals (HCPs) and 30 patients/caregivers in total). The new device consists of a reusable aluminium body and cap, with a multi-use cartridge system, viewing window, dose-display window, dose-selection knob and injection button.Method: Semi-structured 60-min qualitative interviews were conducted in six major US citie...

Introduction: Preclinical models demonstrated that Angiopoietin-like protein 4 (ANGPTL-4) regulates lipid metabolism and affects energy homeostasis. However, no data exist regarding its involvement in childhood and adolescence, periods of life with important metabolic changes.Objectives: We aimed to investigate circulating levels of ANGPTL-4 in children and adolescents and its relationship with gender, puberty and obesit...

Background: Leydig-cell tumours in children are rare, comprising only 4 to 9% of all primary testis tumours in prepubertal males. These boys present with isosexual precocious pseudopuberty characterized by increased testosterone and low gonadotropin levels. We describe two cases and will discuss differential diagnosis and pathogenesis.Case 1: C. was first referred at 8 years old for pubertal development with accelerated growth since 4 years of age. His v...

Background: Laparoscopic sleeve gastrectomy (LSG) has been established as a safe and effective bariatric procedure during adolescence, but its long-term results remain uncertain. Our aim was to report and compare the short- and long-term outcomes of LSG in adolescents.Methods: We performed a retrospective analysis of patients submitted to LSG between 2010 and 2013 in our Institution. Baseline, short-term (1 year) and lon...

Introduction: Primary Pseudotumor cerebri (PPTC), also known as idiopathic intracranial hypertension, is clinically characterized by increased intracranial pressure in an alert and oriented patient, with no evidence of deformity or obstruction of the ventricular system on neuroimaging. Cerebrospinal fluid analysis is normal except for increased intracranial pressure at lumbar puncture, greater than the 90th percentile (28 cm of H2O) in the pediatric population. Papilledema may...

Introduction: Following the onset of the COVID-19 pandemic in early spring 2020, there was a need to identify the burden of this infection on people with rare endocrine conditions. The European Registries For Rare Endocrine Conditions (EuRRECa) was launched in 2018 in collaboration with Endo-ERN, ESPE and ESE to support the needs of the wider endocrine community. The project consists of an e-reporting (e-REC) platform that allows monthly reporting of new clini...

The easypod™ injection device allows automatic recording and transmission of adherence data from patients receiving recombinant human growth hormone (r-hGH; Saizen) to treat growth disorders. Through the easypod™ connect platform, healthcare professionals can access transmitted data and gain insights into adherence patterns. This analysis aimed to evaluate real-world adherence to r-hGH therapy administered via easypod™ at 1, 3, 6 12 and 24 months, plus overall d...

Background: Non-alcoholic fatty liver disease (NAFLD) is a highly prevalent chronic liver disease which occurs in the setting of insulin resistance and increased adiposity. It has rapidly evolved into the most common liver disease seen in the pediatric population. NAFLD can be divided into non-alcoholic fatty liver (NAFL), which denotes bland steatosis, and non-alcoholic steatohepatitis (NASH), which is marked by steatosis and lobular inflammation and hepatoce...

Background: Genetic variants are identified in a small proportion (~10%) of patients with Congenital Hypopituitarism (CH), with variable associated phenotypes. We aimed to phenotypically characterise a large cohort of patients with genetically proven CH.Patients and methods: 1684 CH patients were screened (Sanger or whole exome sequencing) over a 20-year period (1998-2018) for mutations in genes regulating pitui...