ESPE Abstracts

Background: An increase in the incidence of congenital hypothyroidism (CH) with a normally located gland has been reported worldwide. Affected individuals display transient or permanent CH during follow-up in childhood. We aimed to determine the prevalence of transient CH and to assess the possibility of distinguishing between transient and permanent CH in early infancy.Methods: This observational cohort study included all patients identified by systemat...

Background: Prediction models demonstrate potential in predicting growth in patients receiving recombinant human growth hormone (r-hGH) for growth disorders. However, considerable information from patients is needed to calculate a predicted growth curve. The curve matching technique only requires height data. This technique identifies growth curves that are similar (matched) among real-world patients within a database. The growth curves of these ‘matched...

Poor adherence to long-term growth hormone (GH) treatment can lead to suboptimal clinical outcomes. The easypod™ connect eHealth platform enables healthcare professionals to obtain an accurate picture of real-world adherence by allowing patients to transmit adherence data to a database. Our aims were to assess adherence to r-hGH (Saizen, Merck KGaA, Darmstadt, Germany) treatment with the easypod connect platform in children from treatment start to 48 months and to investi...

Background: 46,XY patients with 5α-reductase deficiency (5-ARD), reared from birth as girls, are reported to self-reassign as boys subsequent to a masculinizing puberty; whether this holds true in cases of early orchidectomy is less well documented.Objective and hypotheses: Prepubertal orchidectomy reduces the likelihood of gender self-reassignment.Method: Presentation, management and outcome of two siblings with 5-ARD with na...

Background: Obese children come from families where either one or both parents are obese, suggesting obesity is the result of exposure to detrimental environment.Objective and hypotheses: We propose that inherited insulin resistance is the core which promotes development of obesity and that allergic airway obstruction stalls development of obesity, while peptic gastritis promotes over-eating by confounding portion control.Method: W...

Introduction: Lockdown measures following the COVID-19 pandemic are shown to have greatly affected lifestyle behaviours and health-related quality of life (HRQoL) of children. The impact on children with severe obesity has not yet been described. Aim of this study was to investigate the impact of COVID-19 lockdown on eating behaviours, physical activity (PA), screen time, and HRQoL of children (including adolescents) with severe obesity....

Introduction: Ghrelin binds to its receptor GHSR1A, encoded by GHSR, on somatotrophs of the pituitary. Growth hormone (GH) secretion is enhanced by ghrelin binding as well as the receptor’s constitutive activity. Results from in vitro experiments, knock-out mice, and GWAS suggest that heterozygous loss-of-function of GHSR may be associated with short stature, but observations in case studies are equivocal. We aimed to better ch...

Objective: To provide etiology-based diagnostics to pediatric patients with diabetes in Belgium using routine clinical phenotyping and thorough genotyping.Methods: A Belgian GENEPEDIAB study consortium was created to screen, using routine diagnostic tools, for monogenic forms of diabetes in pediatric patients followed in convention centers for type 1 or type 2 diabetes, while presenting atypical biological and clinical f...

Context: We previously observed that continuous subcutaneous infusion (CSI) of gonadotropins in infants with congenital hypogonadotropic hypogonadism (CHH) can mimic the hormonal pattern of minipuberty.Objective: Describe the peripubertal outcome in gonadotropins CSI treated patients.Patients: A retrospective study was realised in Bicetre Hospital between 2004 and 2022. Follow-up d...

Objectives: Despite high prevalence rates of childhood obesity, youth-onset T2DM occurs in a comparably lower incidence in Europe than in other world regions. Available data from cohorts of obese children and adolescents living in the US suggest a parallel decline of insulin sensitivity and β-cell function as key factors in the pathophysiology of early-onset T2DM. If these results can be applied to European children and adolescents is currently unknown.</...