ESPE Abstracts

Introduction: Brain tumors are the most common solid neoplasm in children, and treatment often includes high-dose irradiation of the central nervous system (CNS). Although not universal, growth hormone deficiency (GHD) is a very common endocrine late effect after CNS irradiation in childhood. The consequences of GHD in adults are many e.g., reduced bone mineral density, fatigue, decreased lean body mass and adiposity, which implies that adults with severe GHD ...

Pediatric overweight and obesity are also an issue in children and adolescents with type 1 diabetes (T1D). Body Mass Index (BMI) is an accurate and widely used clinical method for assessing childhood obesity.Objective: To analyze the BMI-standard deviation scores (SDS) in Bulgarian children and adolescents with T1D and its relationship with age, gender, type of insulin treatment, and HbAlc.Materials and Met...

Pro-opiomelanocortin (POMC) and the melanocortin-4-receptor (MC4R) are playing a key role within the leptin-melanocortin-pathway and thereby for satiety regulation. Mutations within these genes are leading to hyperphagia and early-onset obesity. However, observations of cardiac abnormalities including left ventricular dilatation and reduced contractibility in the MC4R knockout mouse model and reports about a reduced blood pressure in human MC4R variant carriers, led us to inve...

Treatment of short stature in children born small for gestational age (SGA) requires daily growth hormone (GH) injections that can be burdensome for patients and caregivers. Once-weekly somapacitan is a long-acting GH in phase 3 development for replacement therapy in children with GH deficiency. We report the 52-week results of the first phase 2, multinational, randomised, open-label, controlled, dose-finding trial (NCT03878446) investigating efficacy and safety of somapacitan...

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. XLH patients exhibit short stature and skeletal deformities, which are caused by defective bone mineralization site leading to increased porosity and decreased matrix stiffness. Bone mineral density measurements have been shown to be insensitive to the cumulative bone alterations. The velocity of the first arriving signal (vFAS) ...

Background: The initiation of puberty is dependent upon an augmentation of gonadotropin-releasing hormone (GnRH) secretion from the hypothalamus. Development of the GnRH neuroendocrine network in embryonic life depends on coordinated migration of neurons from the vomeronasal organ in the nose to the forebrain. We have previously demonstrated that dysregulation in GnRH neuronal migration leads to delayed pubertal onset. Late puberty affects up to 2% of the ...

Background: Children and adults with chronic thyroid disorders (TD) need continuous monitoring as periods of inadequate thyroid hormone substitution can impact metabolism, puberty and fertility. Transition from pediatric to adult-oriented care is often characterized by discontinuity in care resulting in poor health outcomes and impaired quality of life. Transition care (TC) for young adults with TD remains largely unknown.Objecti...

Triple A syndrome (AAAS) is a rare, incurable, recessive disorder, characterised by achalasia, alacrima, adrenal failure and a neurodegenerative phenotype. The AAAS gene encodes ALADIN, is a nuclear pore complex (NPC) protein necessary for nuclear import of DNA protective molecules, important for redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic reticulum suggests a role outside the NPC. To date, the ...

In XLH, excess fibroblast growth factor 23 (FGF23) causes hypophosphatemia and consequent rickets, skeletal deformities, and growth impairment. The efficacy and safety of burosumab, a fully human monoclonal antibody against FGF23, was evaluated in two Phase 2 trials in children with XLH. In CL201, 52 children with XLH (5–12 years old, Tanner ≤2) were randomized 1:1 to receive subcutaneous burosumab every 2 (Q2W) or 4 (Q4W) weeks, with doses titrated up to 2 mg/kg to...

Introduction: The envelope protein of Human Endogenous Retrovirus type W (HERV-W-Env) has been shown to be associated with type 1 diabetes (T1D) pathogenesis in adults patients. This protein is expressed in pancreas of T1D patients and it seems to correlate with macrophage infiltrations. In vitro and in vivo studies have demonstrated that HERV-W-Env inhibits insulin secretion and promotes hyperglycemia. Furthermore, HERV could be implicated in other auto-immune disorders. The ...