ESPE Abstracts

Background: Adults with CF show a higher rate of osteoporosis compared to healthy adults. Achieving proper bone mass is a process starting in childhood. We aimed to evaluate the prevalence of decreased bone mineral density (BMD), changes during puberty and risk factors for low BMD in children and adolescences with CF in a large Dutch cohort.Patients and methods: A retrospective observational cohort study was performed in...

Background: It is well known that endocrine comorbidities occur frequently in children with cancer, especially in those with a brain tumor. In those children, increased intracranial pressure or hydrocephalus may lead to central precocious puberty. Furthermore, chemotherapy, especially alkylating agents, increases the risk for gonadal insufficiency. In this case series we describe 3 young girls with a brain tumor, who develop premature gonadotrophic activation,...

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...

Rationale: Bronchopulmonary dysplasia (BPD) is a major complication of preterm birth, which pathophysiology involves systematic inflammation. Preterm infants commonly suffer from relative adrenal insufficiency (RAI) in their first week of life, resulting in an insufficient production of cortisol inappropriate for the degree of inflammation. One of the major causes of RAI is immaturity of adrenal cortex enzymes, leading to an accumulation of cortisol precursors...

Background: Biallelic loss of function (LoF) mutations in the leptin receptor gene (LEPR) cause a striking phenotype of early-onset severe obesity and hyperphagia. Additionally, hypogonadotropic hypogonadism, growth hormone deficiency, and/or hypothyroidism are often present. Currently, 19 European patients (all aged <30 years) are described in literature. As clinical trials investigating MC4R-agonist treatment are performed throughout Europe, ide...