ESPE Abstracts

Background: Low birth-weight and unfavourable intrauterine conditions are associated with a subsequent impact on the endocrine system. Many studies reported hyperandrogenaemia and precocious adrenarche in children born small for gestational age (SGA). However, little information is available on steroid profiles in these subjects.Objective and Hypotheses: We followed genetically identical twins with intra-twin birth-weigh...

Preliminary results:Objective: Although low birthweight (bw) and unfavourable intrauterine conditions have been associated with metabolic sequelae in later life, little is known about their impact on steroid metabolism. We studied genetically identical twins with intra-twin bw-differences from birth to adolescence to analyse the long-term impact of bw on steroid metabolism.Methods:...

Cytochrome P450 oxidoreductase (POR) is the obligatory redox partner of steroid and drug-metabolizing cytochrome P450s located in the endoplasmic reticulum. Mutations in POR cause a broad range of disorders like congenital adrenal hyperplasia that may resemble bone malformations resembling Antley-Bixler syndrome. Genome sequencing studies have revealed the existence of a POR missense variant P228. We aimed to determine the detailed functional impact of POR variant P228L for it...

Objectives: No validated achondroplasia (ACH)-specific patient reported outcome (PRO) or clinician-reported outcome (ClinRO) measures are available. A detailed review of generic PRO and ClinRO measures was performed to select relevant tools for further evaluation in a qualitative study.Methods: Published literature describing medical challenges and impacts among children with ACH was reviewed to identify important concep...

Objectives: Individuals with achondroplasia (ACH) experience medical, emotional and functional detriments during their lifetime. A comprehensive research initiative was conducted to include combined concept elicitation (CE) and cognitive debriefing (CD) interviews and mapping of concepts to identify the most relevant available patient-reported outcome (PRO) measures for inclusion in studies of ACH.Methods: Combined CE/CD...

Background: Adrenocortical Carcinoma (ACC) represents 0.16% of all pediatric neoplasm in children, 0-14.9 years, diagnosed between 1984-2010 according to Swedish Childhood Cancer Registry. ACC is most frequent in girls below 4 years of age.Case: A physically active 14 years old girl was referred due to growth velocity 0 cm over the last year. Her history revealed substantial weight gain (photos), pubertal arrest prem...

Introduction: Treatment of patients with VSD (Variation of Sex Development), in particular severe hypospadias, is associated with high rate of post-operative complications using current surgical procedures. This leads to a high rate of re-operation in an already emotionally complicated situation. We improved the tissue engineered acellular tubular collagen scaffolds that showed promising results in the rabbit model to implant it to a dog model. This FDA approved new version ac...

Background: Lipodystrophy syndromes comprise a large group of extremely rare diseases characterized by loss or dysfunction of adipose tissue. Due to their extreme rarity and variability, research in the field of lipodystrophy is difficult for single centres warranting larger co-operations.Methods: Therefore, the European Consortium of Lipodystrophies decided to found an international registry in 2016. This registry is ba...

Introduction: Pediatric obesity is an important public health problem. Exogenous obesity represents most cases; in some children, obesity is attributable to endocrine or genetic disorders. Genetic etiology should be considered in children with dysmorphic features, global developmental delay, early onset severe obesity (before 5 years), hyperphagia or severe obesity family history. Regardless of the etiology, treatment must begin with long-term lifestyle change...

Encouraged by unimolecular dual incretin co-agonists (GLP1/GIP) to enhance glycemic efficacy (Finan et al. 2013, Sci Transl Med) and GLP1/glucagon co-agonists to enhance weight loss efficacy (Day et al. 2009, Nat Chem Biol) and to restore diet-induced leptin sensitivity (Clemmensen et al. 2014, Diabetes), we recently developed the first tri-agonist (GLP1/GIP/glucagon) for the treatment of metabolic disorders (Finan et al. 2014, Nat Med). Importantly, this concerted triple agon...