ESPE Abstracts

Introduction: Acromegaly is a rare disorder, developed by overproduction of growth hormone (GH) and insulin-growth factor 1 (IGF-1), in most cases based on a pituitary adenoma. The increased IGF-1 and GH levels lead to the growth of acres and organs as well as metabolic changes. When manifesting before epiphyseal closure, a giant growth develops.Case Report: A Ukrainian girl presented at the age of 14 years with enlargem...

Background: In our center for adults with rare genetic syndromes, we see adolescents and young adults with overgrowth syndromes, among others. In our 'general endocrinology' outpatient clinic, we also see patients with overgrowth, but in these cases the overgrowth is due to excess of growth hormone (GH). Our clinical impression is that the differentiation between the two is often challenging. Therefore, we believe it is important to emphasize the dif...

The phenotype in male individuals with a mosaic sex chromosomal abnormality is heterogenous, but ambiguous genitalia, delayed puberty, disturbed spermatogenesis, and short stature are frequently seen. Genetic investigation in boys with idiopathic/isolated short stature usually includes SHOX gene analysis (sequencing and copy number detection by MLPA), genome wide array analysis, and/or whole exome sequencing (WES). In the Netherlands, conventional karyotyping is not part of th...

Context: Supra-physiological exogenous corticosteroids used during the last months of pregnancy may lead to temporary neonatal adrenal suppression. Little is known about the outcome of neonates from mothers who used corticosteroids during pregnancy.Objective: The evaluation of clinical symptoms and biochemical findings of adrenal suppression in neonates from mothers using corticosteroids during pregnancy.<p class="ab...

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:...

Introduction: Individuals with Prader-Willi syndrome (PWS) suffer from hyperphagia, hypotonia and hypothalamic dysfunction, leading to a variety of pituitary hormone deficiencies. Central adrenal insufficiency (CAI) has been reported in PWS, while each of these studies used different testing modalities and cut-off values. Therefore, reported prevalence of CAI ranges from 0% to 60%. It has been speculated that CAI might be responsible, at least in part,...

Background: Underlying causes of obesity are thought to be rare even in specialized paediatric endocrinology clinics. However, evidence is limited. The Endocrine Society (ES) guideline for paediatric obesity makes the following diagnostic recommendations: endocrine evaluation in presence of reduced growth velocity, evaluation of cerebral obesity in presence of CNS injury, re-evaluation of drug choice in patients using antipsychotics. Genetic testing is recomme...

Background: Early-onset obesity is associated with genetic obesity disorders. According to the Endocrine Society guideline for paediatric obesity, genetic screening is indicated in selected cases with age of onset (AoO) of obesity <5 years. However, this cut-off value lacks evidence. Identifying genetic obesity is vital as treatment for leptin-melanocortin pathway disorders becomes available. We aimed to determine whether AoO of obesity is predictive for g...

Introduction: Turner syndrome (TS) is a genetic condition which is reported to be associated with electrocardiogram (ECG) abnormalities, of which the rate-corrected QT interval (QTc) is the most common indicated deviation. Our objectives were to gain more insight in the prevalence of QTc-prolongation using both Bazett's and Hodge's correction formulas in patients with TS of all ages and to investigate whether QTc prolongation is more prevalent in patie...

Introduction: Hypophosphatasia (HPP) is a congenital disorder of the bone and mineral metabolism. It is based on mutations in the ALPL gene, which codes for tissue-unspecific alkaline phosphatase (TNSAP). Methods:The casuistic of 3 children with heterozygous ALPL mutation are presented. The patients were identified by laboratory data screening for reduced AP activity at the Children's Hospital of the University Hospital Freiburg....