ESPE Abstracts

Congenital hyperinsulinism (CHI) is an ultra-rare disease characterized by excessive insulin secretion that results in persistent hypoglycemia. If left untreated, CHI-induced severe prolonged hypoglycemia may lead to permanent neurologic damage. Currently used pharmacologic agents fail to prevent hypoglycemia in a subset of patients with CHI. HM15136 is a novel long-acting glucagon analogue that have demonstrated good stability and extended half-life ranging from 77 to 167 hou...

Objective of the research: To compare clinical laboratory and genitometric parameters in girls with hypogonadotropic hypogonadism (HH) and constitutional delayed puberty (CDP).Materials and Methods: 23 female patients with delayed puberty are included in the study.Inclusion criteria: Absence of secondary sexual characteristics at age ≥13 years or absence of menarche at age ≥1...

Background: Patients with genetic variants in the melanocortin-4 receptor (MC4R) pathway may present with early-onset, severe obesity and hyperphagia. Increasing awareness of genetic testing could improve diagnosis of rare genetic causes of obesity and identify patients who might benefit from targeted therapy; however, such testing has been limited. Moreover, the frequency of specific genetic variants in this population is currently unknown. The Rare Obesity A...

Background: Children with metabolic syndrome carry an increased risk for development of type 2 diabetes mellitus (T2DM) and cardiovascular disease (CVD) in adulthood. Patients with rare syndromic obesity, such as Bardet-Biedl syndrome (BBS), experience early-onset, severe obesity, which may convey an increased risk for developing obesity-related comorbidities and metabolic syndrome later in life. In clinical trials, treatment with the melanocortin-4 receptor a...

Background: Achondroplasia (ACH), the most common short-limbed skeletal dysplasia, is characterized by impaired endochondral ossification resulting from gain-of-function pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone growth. People with ACH are at risk for several significant co-morbidities, including brainstem compression due to foramen magnum stenosis, sleep-disordered breathing, chronic...

Background: The SCOPE French retrospective study follows children affected with growth hormone (GH) disorders treated with recombinant human GH (r-hGH) therapy via the easypod® connected injection device for up to 5 years.Aim: To show the results from an interim analysis of the SCOPE study analysing adherence to r-hGH therapy in a real-world setting and its effect on catch-up growth.Met...

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...

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...

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...