ESPE Abstracts

Context: Growth analyses have traditionally been done by either non-structural descriptive statistics or by fitting models. While we usually describe height and weight separately, we assume reciprocity of weight and height on each other. We utilize ML to predict ages 7–18 y height based on height and weight data up to age 6y.Methods: After pre-processing the height and weight, primary and secondary features (height SDS, BMI, growth velocity) of 1596...

Background: Somapacitan is a reversible albumin-binding growth hormone (GH) derivative in clinical development for once-weekly administration in patients with GH deficiency (GHD). Clinical data in healthy subjects, and adults and children with GHD showed that once-weekly somapacitan injections were well tolerated with no clinically significant safety or local tolerability issues. A sustained dose-dependent IGF-I response supports a once-weekly treatment regimen.<p class="a...

Acute lymphoblastic leukemia (ALL) is the most prevalent cancer in childhood. Over the past decades, survival rates increased, but relapse is still associated with a poor prognosis, especially if the bone marrow (BM) is affected. Marrow adipose tissue (MAT) constitutes a major part of the BM niche, but its impact on normal hematopoiesis versus leukemia initiation, progression and relapse has only recently gained attention. MAT is very sensitive to changes in the patient’s...

Introduction: Glucagon-like peptide 1 (GLP-1) receptor agonists have been successfully used in adults with hypothalamic obesity, showing a BMI decrease and metabolic profile improvement. Data on GLP-1 receptor agonist treatment for children and adolescents is limited. Herein, we present a clinical case of a male adolescent treated with GLP-1 receptor agonist for hypothalamic obesity, secondary to craniopharyngioma.Case report: A 15.8 year-old boy (Height...

Background: Nutrient deprivation during early development has been associated with the predisposition to metabolic disorders in numerous epidemiological studies. Experiments with rodents also indicate a developmental plasticity of neuropsychological characteristics following alterations of early postnatal nutrition.Objective: Considering its interaction with metabolism and regulation of appetite and behavior, the endocannabinoid system (ECS) may represen...

Background: Aberrations in the timing of puberty may result in significant adverse health outcomes, including cancers, cardiovascular and neurological pathologies. Self-limited delayed puberty (DP) (i.e. constitutional delay of puberty) runs in families with either autosomal dominant or complex inheritance patterns in >70% of families, indicating a strong genetic basis of the trait. However, only a few genes have been identified underlying DP so far....

Background: Glucocorticoids play an important role in the developing fetus; the most important of which is lung maturation by increasing surfactant production and release. Glucocorticoid receptor (GR) functioning changes throughout the fetal period, especially during the transition to extrauterine life. Given the importance of glucocorticoids in lung development and functioning, studying glucocorticoid sensitivity (GS) in this population would be helpful, especially in the pre...

Background: Growth hormone (GH) replacement as daily s.c. injections for patients with adults with GH deficiency (AGHD) can be cumbersome. Somapacitan (Novo Nordisk), a once-weekly reversible albumin-binding GH derivative, has been shown in short-term trials to be well tolerated in healthy adults and in patients with AGHD.Objective and hypotheses: This trial was a multinational, multicentre, randomised (2:1), open-label, active-controlle...

Background: POU1F1 encodes a pituitary-specific homeodomain transcription factor that is crucial for development and differentiation of anterior pituitary cell types. Mutations in this gene result in GH, TSH and prolactin (PRL) deficiencies.Objective and hypotheses: To describe a male newborn of a mother with known dominant p.R271W mutation in the POU1F1 gene.Methods: Case report with clinical follow up, endocrine investigations, n...

Background: Trisomy 21 is associated with an increased susceptibility to respiratory infections.Objective and hypotheses: For a more detailed characterization of the adaptive immune response, we analyzed the cellular and humoral immunity to specific pathogens in blood samples of 40 children with Down’s syndrome in comparison to 51 age-matched controls.Method: We quantitatively analyzed lymphocyte subpopulations using flow cyto...