ESPE Abstracts

Hypogonadism is represented by a hypo- and hypergonadotropic variant. Antymüllerian hormone (AMH) and inhibin B are used to assess ovarian reserve, but in pediatric practice their role has not been studied. The main interest is to conduct the study of ovarian reserve in hypogonadism among girls.Objective of the Research: To compare the content of inhibin B, AMH and estradiol in girls with hyper- and hypogonadotropic hypogonadism...

Background: The NPR2 gene plays a critical role in the human growth plate. Pathogenic NPR2 variants can result in varying degrees of short stature. The majority of subjects have no specific clinical findings and are likely classified as idiopathic short stature.Objective: To describe the phenotypic spectrum, analyze genotype-phenotype correlations and assess the response and safety of growth hormone (GH...

Introduction: Prader Willi Syndrome (PWS) is a genetic disorder caused by the lack of expression of paternally inherited genes in chromosome 15q11-q13 region. Central adrenal insufficiency (CAI) has been described but its prevalence is unknown.Aim: to assess central adrenal function in a group of prepuberal PWS patients suspected of CAI.Methods: PWS patients with confirmed molecula...

La puberté précoce est définie comme le développement des caractéristiques sexuelles avant l'âge de 8 ans chez les filles et de 9,5 ans chez les garçons. L'objectif de notre étude était de calculer la prévalence de la puberté précoce en consultation spécialisée et de décrire le profil clinique, paraclinique, étiologique et de prise en charge ainsi que la qua...

Background: Achondroplasia is the most common skeletal dysplasia associated with inhibited growth development and disproportionately short stature; morbidity and complications are apparent at birth and continue throughout life. We assessed the clinical and healthcare resource utilization (HCRU) burden of achondroplasia in US children and adolescents.Methods: This retrospective study assessed children and adolescents (age...

Objectives: Osteogenesis imperfecta (OI) is a skeletal dysplasia affecting 1–2 individuals per 20,000 live births, but the burden of disease in children and adolescents remains unclear. We assessed the clinical and healthcare resource utilization (HCRU) burden of OI in US clinical practice.Methods: This retrospective cohort study included children and adolescents (aged ≤19 years) with OI (≥1 inpatient claim, ...

Introduction: Achondroplasia is the most common skeletal dysplasia, caused by a pathogenic FGFR3 variant, leading to impaired endochondral bone growth and multiple medical complications. Vosoritide, a modified recombinant human C-type natriuretic peptide (rhCNP), was first approved by the European Medicines Agency in August 2021 and is now approved for treating genetically-confirmed achondroplasia in patients aged ≥4 months until closure of epiphys...

Childhood obesity is associated with present and future complications, including type 2 diabetes and cardiovascular disease. Although lifestyle interventions (i.e. dietary and physical activity counselling) are the cornerstone of therapy, their impact on body mass index (BMI) is limited. The phase 3a SCALE Kids study (NCT04775082) demonstrated superiority of liraglutide 3.0 mg versus placebo, plus lifestyle interventions, for BMI reduction in children with general (i.e. non-mo...

Introduction: Serum glycated albumin (GA) is a glycemic marker reflecting the average serum glucose values for the previous 2 weeks. The purpose of this study was to evaluate the usefulness of serum GA as a glycemic index complementing glycosylated hemoglobin (HbA1c) in children and adolescents.Methods: Fifty-four children and adolescents with diabetes mellitus (DM) and 98 children and adolescents without DM (Non-DM) wer...

Background: Triglyceride glucose (TyG) index is known as a reliable insulin resistance surrogate marker to identify non-alcoholic fatty liver disease (NAFLD). Ultrasound fatty liver indicator (US-FLI) is proposed as a non-invasive, semi-quantitative method for predicting hepatitis in children with NAFLD and may reflect the severity of liver histological changes. US-FLI ≥4 has been suggested as a predictive finding for severe NASH. US-FLI correlates signific...