ESPE Abstracts

Background: Patients with Congenital Adrenal Hyperplasia (CAH) are at risk of several co-morbidities, such as impaired cognitive functions, short stature and adverse effects on metabolism. The causes of these effects are suboptimal glucocorticoid replacement therapy, adrenal crises and prenatal glucocorticoid exposure. However, there are no data available to this day how these factors are affecting epigenomic programs.Objective and hypot...

Background: Individuals with classic congenital adrenal hyperplasia (CAH) are treated postnatally with glucocorticoids. Earlier research with animals and other disorders with excess GC exposure implicate that GCs can influence memory. Deficits in working memory can be seen already during childhood in children with classic CAH.Objective: We tested the hypothesis that adult individuals with classic CAH show impaired cognitive functions.<p class="abstex...

Background: Small for gestational age (SGA) children have reportedly increased DHEAS levels during prepubertal years. However, steroid hormones have not been followed longitudinally in a healthy population compared to body composition.Aims and objectives: To evaluate steroid hormone patterns in prepubertal children correlated to visceral fat measures.Methods: Body composition was investigated with magnetic resonance (MR) of truncal...

Objective: Congenital Adrenal Hyperplasia (CAH) requires life-long replacement of cortisol. However, this long-term GC-treatment could change the developmental trajectory of the brain and predispose patients to problems with cognition and mood regulation. Previously, we have found impairments in working memory in patients with CAH, as well as alterations in brain structure in regions of the central executive network (CEN). These changes could be associated wit...

Introduction: Cardiovascular disease (CVD) is the major cause of morbidity and mortality in type 1 diabetes (T1D). Recent studies implicated deregulated phosphate homeostasis in the etiology of CVD. The objective of this study is to address the relationship between the phosphate-regulating hormone fibroblast growth factor 23 (FGF23) and cardiovascular risk factors in adults with and without type 1 diabetes (T1D).Methods:...

Background: The prevalence of atypical genitalia and the time taken to assign sex in such cases remains unclear. Provision of optimum healthcare during this period requires a clear understanding of the occurrence of atypical genitalia.Methods: Prospective electronic survey of clinical members of managed clinical networks in Scotland between 2013 and 2018 seeking notification of term neonates requiring specialist input fo...

Background: Human GH is a heterogeneous protein hormone consisting of several isoforms, the most abundant being 22 kDa- and 20 kDa-GH. The availability of analytical methods to measure these GH isoforms might represent a valuable diagnostic tool to investigate GH secretion in short stature.Objective and hypotheses: Aim of the present study was to measure circulating levels of 22 kDa- and 20 kDa-GH in children with different diagnosis of short stature suc...

Background: In a large fraction of patients with clinically presumed Androgen Insensitivity Syndrome, no mutation of the Androgen Receptor gene can be detected. However, established Sanger sequencing techniques of the AR gene are often limited to the coding region.Objective and Hypotheses: To set up a next generation sequencing (NGS) approach of the entire AR locus (including UTRs, exons, introns, up- and downstream regions) for a comprehensive ...

Introduction: This review summarizes the genetic findings in Growth Hormone Deficiency (GHD) versus Idiopathic Short Stature (ISS) and their effects on clinical, radiological, and laboratory outcomes.Methods: A literature review was conducted to identify studies reporting genetic findings related to GHD and ISS.Results: Genetic Findings in GHD: Mutations in GH-1, G...

Objectives: Continuous subcutaneous insulin infusion (CSII) has been associated with lower HbA1c. To explore whether CSII initiation leads to HbA1c improvement in each individual with type-1 diabetes and to identify co-variates which might influence change in HbA1c.Methods: 5,040 pediatric type-1-diabetes subjects (δ20 y, 49% boys, median age at diabetes onset [Q1;Q3]: 5.9 [3.5;8.4] years) ...