ESPE Abstracts

Background: Down Syndrome (DS) patients have a higher incidence of primary hypothyroidism. We previously demonstrated that transgenic mice overexpressing Dyrk1A had developmental (larger primary thyroids at E15.5 stage of development), morphological (disorganized follicles) and functional (significant lower plasma T4) impairments similar to DS thyroidal impairments (Endocrinology 2015). DYRK1A, localized in the DS critical region on chromosome 21, is therefore the can...

Background: The post-authorization registry, EU-IGFD, was initiated in Dec-2008 to collect data in children with growth failure receiving Increlex® (Mecasermin [rDNA Origin] Injection).Objective and hypotheses: To report patient characteristics, safety and effectiveness data in poor-responders (i.e. with change in year 1 Height SDS <0.3).Method: European, multicentre, open-label, observational study; eCRF data collection.<...

Background: The post-authorization registry, European Increlex® (Mecasermin (rDNA Origin) injection) growth forum database (EU-IGFD) was initiated in Dec 2008 to collect data on children with growth failure treated with Increlex®.Objective: To report 4-year safety and effectiveness data.Methods: Multicenter, open-label observational study, eCRF data collection.Results: As of 30...

Background: The post-authorisation registry, European Increlex® Growth Forum Database (EU-IGFD), initiated in December 2008, collects data in children receiving Increlex (mecasermin (rDNA origin) injection) for growth failure, including Laron syndrome (LS) (severe primary IGF1 deficiency with confirmed GH-receptor mutation).Objective and hypotheses: Report safety and effectiveness data in children with LS.Method: Multicentre, ...

Background: The post-authorisation registry, European Increlex® (mecasermin (rDNA origin) injection) Growth European Increlex Growth Forum Database (EU-IGFD), initiated in December 2008, collects safety and efficacy data in children receiving Increlex® for growth failure. Hypoglycaemia has been reported as a common adverse event (AE) during any IGF1 replacement therapy in randomised clinical trials, and is therefore of interest in real-life sett...

Background: Renal transplantation (RTx) is the most common solid organ transplant procedure. Several studies have reported on puberty and gonadal function in female RTx recipients with controversial results.Objective: We sought to describe puberty and gonadal function in adolescents after RTx before 16 years.Methods: We reported retrospectively the clinical signs of puberty, growth, medication and graft function of 20 girls aged 19...

Background and Objectives: Offspring born to obese mothers are at an increased risk of chronic disease including type 2 diabetes (T2D), obesity, hypertension, cardiovascular disease (CVD), non-alcoholic fatty liver disease (NAFLD) and chronic kidney disease (CKD). This metabolic programming is produced, in part, by epigenetic changes such us DNA methylation. We postulated that obesity exposure impacts the offspring's methylome and used an epigenomic approa...

Introduction: Congenital adrenal hyperplasia (CAH) is associated with long-term health problems. However, little is known about co-morbidities and their onset in children and young persons (CYP).Objective: To establish the health status of CYP with CAH across the United Kingdom.Methods: A multi-centre prospective study recruited 102 patients with 21-hydroxylase deficiency targeting...

Background/aims: The high complexity of Pediatric reference ranges across age, sex and units impairs clinical application and comparability of steroid hormone data, e.g., in CAHs. We developed a Multiples-of-Median (MoM) normalization tool to overcome this major drawback in Pediatric Endocrinology.Methods: LC–MS/MS data comprising 10 steroid hormones representing 905 controls (555 males, 350 females, 0 to >16 years) from two previous datasets we...

Background/Objective: Micro-and macrovascular changes are the cause for diabetes complications. Retinal vessel analysis is a unique method to examine microvascular changes in brain derived vessels.Subjects/Methods: Sixty-seven pediatric and adolescent type 1 diabetes patients and 58 healthy control persons underwent nonmydriatic retinal photography of both eyes. Arterioles and venules positioned in the region 0.5 to 1 diameter of the optic disc measured ...