ESPE Abstracts

Background: Mutations in the gene encoding the Chromodomain Helicase DNA-binding protein 7 (CHD7) are found in 60% of patients with CHARGE Syndrome (Coloboma, Heart Defects, Choanal Atresia, Retarded growth and development, Genital hypoplasia, Ear abnormalities and/or hearing problems) and in 6% of patients with Kallmann syndrome.Objectives and hypotheses: To describe a novel CHD7 mutation and its clinical presentation.<p class="abs...

Background: The broad spectrum of associated diseases underlying the diverse phenotypes of patients with Turner syndrome (TS) has been extensively described. However, the underlying pathophysiological mechanisms remain unknown. Few studies have analyzed congenital and acquired diseases as a function of karyotype, and conflicting results have been obtained, calling into question the role of haploinsufficiency for genes located on the X chromosome.Objectiv...

Background: Early-life risk factors of childhood obesity include maternal obesity; smoking, diabetes and high weight gain during pregnancy for the mother; short duration of breastfeeding and poor quality of early feeding in the infants. Perinatal life thus may be a good period for primary prevention.Objective and hypotheses: We aimed to evaluate whether perinatal education of overweight pregnant women would reduce childhood overweight.<p class="abste...

Background: Screening for glucose intolerance (GI) or type 2 diabetes (T2D) is recommended for obese children over 10 years of age (or onset of puberty) in the presence of ≧2 of the following risk factors: family history of T2D in a first- or second-degree relative, high risk ethnicity, signs of insulin resistance (IR) or associated conditions, or maternal gestational diabetes. The diagnostic importance of HbA1C levels is still controversial in children and adolescents....

Background: Thyroid hormones contribute to a wide range of physiological processes and health outcomes. Epigenetic regulation of thyroid development and function has been little explored. PAX8 (Paired Box 8) is a thyroid transcription factor implicated in thyroid gland development and differentiation. PAX8 gene methylation appears to be sensitive to the environment in early pregnancy.Methods and Findings: Using a recall-by-epige...

Introduction: Turner syndrome (TS) association with multi-organ system comorbidities highlights the need for effective implementation of follow-up guidelines. We aimed to assess 1/ the adequacy of care with international guidelines published in 2007 and 2017 and to describe the phenotype of patients; 2/ the effectiveness of our transition program.Methods: In this multicenter retrospective descriptive cohort study, we col...

Introduction: Numerous studies highlighted a secular trend toward earlier puberty. Several factors, including nutrition and migration, may explain this trend. It is known that girls born small for gestational age (SGA) start puberty at a younger age compared to those born average for gestational age (AGA) and that overweight in childhood may be a risk factor for central precocious puberty (CPP), especially in girls. This study mainly aims to compare the evolut...

Purpose: Artificial intelligence (AI) is increasingly used for medical imaging procedures, including automated bone age (BA) evaluation. We aimed to evaluate the agreement between two different BA methods, the IB lab PANDA® and BoneXpert® artificial intelligence methods vs. the manual reference rating in children for BA determination, and to compare the IB lab PANDA performance to the BoneXpert method.<stron...

X-linked hypophosphatemia (XLH, MIM#307800) is a rare, dominantly inherited skeletal disorder characterized by excessive production and elevated circulating levels of fibroblast growth factor 23 (FGF23) resulting in renal phosphate wasting, hypophosphatemia, and defective bone mineralization. This leads to rickets, osteomalacia, pain, skeletal deformities, short stature, and reduced physical function. Recently, a monoclonal FGF23 antibody (burosumab) has become available as a ...

Background: The Study and Collection of Observational data for Patients with easypod® Connect (SCOPE) French retrospective study follows children with growth disorders treated with recombinant human growth hormone (r-hGH) therapy via the easypod® connected injection device for up to 5 years.Aim: To show the results from the SCOPE study analysing the adherence to r-hGH therapy in a real-world setting and its effec...