ESPE Abstracts

Introduction: Monogenic obesity refers to a group of rare, early-onset forms of obesity and accounts for about 7% of patients with severe pediatric obesity. Recent reports demonstrate the emerging role of Src-homology-2 (SH2) B adaptor protein 1 (Sh2b1), an important component in the leptin-melanocortin pathway, as a key regulator of leptin and insulin signaling, with possible roles in the pathogenesis of obesity and diabetes. SH2B1 deletions are found to be a...

Aim: There is a current lack of international guidelines for managing the endocrine aspects of Noonan syndrome (NS). A clinical practice survey was developed to identify knowledge gaps and differences in the management of patients with NS across Europe.Materials and Methods: A 60-question clinical practice survey was developed for clinical geneticists, paediatric endocrinologists and paediatric cardiologists directly involved in treating...

Bile acids (BA) are C24 steroids synthesized from cholesterol in liver. Originally, they were mainly considered to function as emulsifiers supporting resorption of lipophilic food compounds and excretion of metabolic products. Recently, their additional biological and endocrine functions in the regulation of metabolism have aroused interest of researchers. In contrast to BA in blood, it is surprising that hardly any data exist on BA in the most accessible human biof...

Background: Congenital hyperinsulinism (CHI) is a rare disorder, which causes persistent and severe hypoglycaemia in infants and children. CHI can be treated with glucagon, but long-term use is challenging owing to its instability in aqueous solution. Dasiglucagon, a stable glucagon analogue designed for long-term use as a subcutaneous continuous infusion, is in clinical development. Here, we present dasiglucagon safety results in participants treated for up t...

Introduction: Achondroplasia is the most common skeletal dysplasia, in which the main clinical feature is short stature. Vosoritide, the first specific treatment for achondroplasia; administered as a daily subcutaneous injection, was approved by the European Medicines Agency in August 2021 for patients aged ≥2 years until closure of epiphyses. French Health Authorities granted early access to vosoritide treatment in France on 24 June 2021, which continued u...

Hypercalcemia and nephrocalcinosis (NC) are rare findings associated with congenital adrenal hyperplasia (CAH), whose pathogenetic mechanisms are still unclear. In this study we aimed to investigate the prevalence of NC in a cohort of Italian children affected with classical form of CAH, and to correlate its association with metabolic control of the disease.Subjects and Methods: This is a multicenter one year-perspective study involving ...

Introduction: The aim of the project “DSDCare” is to implement standardized care for people with DSD following national and international guidelines and to evaluate structural, process and outcome quality of care at 10 specialized centres in Germany from May 2020 till June 2023. Transition from paediatric to adult care is a crucial phase in chronic and rare conditions. In DSD, “loss to follow-up” is usually not associated with acute com...

Objectives: To discuss all challenges involved with providing children (including the very young) and adolescents with diabetes (CwD) with the latest appropriate technology, such as automated insulin delivery systems (AIDs), to manage their blood glucose and help improve their quality of life and suggest ways in which access to new types of devices available to adults can be improved for children with T1D.Methods: In con...

Aims: Although rare, craniopharyngiomas are the commonest suprasellar tumour in childhood. Despite high overall survival, children and young people <19 years with craniopharyngiomas are at risk of multiple relapses and long-term tumour- and treatment-related neuroendocrine, cognitive and visual morbidity. A recent international survey highlighted the considerable variation in management strategies employed for these tumours, and the lack of any evidence- a...

Background: Lipodystrophy syndromes comprise a large group of extremely rare diseases characterized by loss or dysfunction of adipose tissue. Due to their extreme rarity and variability, research in the field of lipodystrophy is difficult for single centres warranting larger co-operations.Methods: Therefore, the European Consortium of Lipodystrophies decided to found an international registry in 2016. This registry is ba...