ESPE Abstracts

Background: Patients with non-classical congenital adrenal hyperplasia (NCCAH) generally show a normal growth pattern and reach to their target height. However, short final height can occasionally occur. Here, we present a patient with NCCAH who reach his target height with additional therapy.Case Report: A 10.5-year-old boy was brought in due to pubic hair growth that had started before 6 months. He was born at 30 weeks...

Introduction: Mendelian diseases are rare individually but collectively are estimated to affect more than 5% of global population with more than 6000 different rare phenotypes including monogenic forms of diabetes. The proportion of individuals who possess a particular genotype and exhibit the expected phenotype is defined as the penetrance of that genotype. If everyone with the genotype presents with clinical symptoms by a particular age, then it is said to b...

Background: Vitamin D Dependent Rickets Type-II (VDDRII) is a rare autosomal recessive disorder characterized by defects in its effect on the target organ due to mutations in the vitamin receptor (VDR) gene (Type 2) encoding for the active form 1,25 dihydroxyvitamin D.Objective and hypotheses: To evaluate the clinical characteristics, molecular genetics analysis results and long-term follow-up of a large nationwide cohor...

Obesity in adolescents is associated with increased risk of prediabetes and type 2 diabetes (T2D) and long-term complications in adulthood. Data regarding the effects of anti-obesity medications on glycaemic outcomes in adolescents are sparse. STEP TEENS (NCT04102189), a phase 3a, double-blind, placebo-controlled randomised trial in adolescents 12 to <18 years of age with obesity demonstrated that once-weekly subcutaneous semaglutide 2.4 mg provided a greater percentage red...

Background: The need to understand the relationship between bone, muscle, and fat within the bone-muscle unit has recently gained great prominence. Although high resolution (HR) MRI is a non-invasive imaging modality that can provide this information, there is limited expertise in children and young people.Objectives: To establish MRI-based normative data for bone, bone marrow adiposity and muscle adiposity in children a...

Abnormal DNA methylation contributes to tumor progression and is emerging as a prognostic marker in several types of cancers. To investigate whether DNA methylation is associated with pediatric adrenocortical tumor (pACT) presentation and patient prognosis, we analyzed the methylation profile of 57 tumors (MethylationEPIC BeadChip Array-Illumina) and patients’ clinicopathological features and outcome. The study comprehended 40 girls and 17 boys, with median age at diagnos...

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: It is well known that growth hormone (GH) brings about several effects, involving bone, body composition, lipids and glucose homeostasis. However, the complex interplay between these parameters is rather poorly studied in children with childhood-onset-GH deficiency (CO-GHD).Objective and hypotheses: To investigate lipids, adipokines (leptin- adiponectin- resistin) and glucose homeostasis and their relationship with bone and body composition i...

Introduction: Vosoritide increases growth in children with achondroplasia aged 5–18 years (Savarirayan et al, Genet Med, 2021). We recently reported results from a phase 2, randomized, double-blind, placebo-controlled study (111-206) in young children with achondroplasia aged 3 months–5 years Here we present results from an open-label extension study (111-208) spanning up to 4 years of treatment in the children aged 2-5 years at study star...

Dyslipidemia is one of the major risk factors for cardiovascular disease in diabetes mellitus. The characteristic features of diabetic dyslipidemia in adults are a high plasma triglyceride concentration, low HDL cholesterol concentration and increased LDL cholesterol. Dyslipidaemia in children with type 1 diabetes mellitus (T1D) have been little studied (P. Lozano et al., 2016; J. D. Schofield et al.,2016; M. Kinoshita et al., 2018; C.Elkins et al., 2019). DECODE studies (Diab...