ESPE Abstracts

Introduction: Recombinant Growth Hormone (GH) has changed the lives of many patients with Prader-Willi Syndrome (PWS). GH treatment has beneficial effects on body composition, physical performance, cognition, psychomotor development, respiratory function and quality of life of patients with PWS. Due to the narrow therapeutic range, GH treatment is subject to strict limits. Clinicians measure serum immunoreactive Insulin-like Growth Factor 1 ('total IGF-I&#...

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: Lockdown measures following the COVID-19 pandemic are shown to have greatly affected lifestyle behaviours and health-related quality of life (HRQoL) of children. The impact on children with severe obesity has not yet been described. Aim of this study was to investigate the impact of COVID-19 lockdown on eating behaviours, physical activity (PA), screen time, and HRQoL of children (including adolescents) with severe obesity....

Rationale: Bronchopulmonary dysplasia (BPD) is a major complication of preterm birth, which pathophysiology involves systematic inflammation. Preterm infants commonly suffer from relative adrenal insufficiency (RAI) in their first week of life, resulting in an insufficient production of cortisol inappropriate for the degree of inflammation. One of the major causes of RAI is immaturity of adrenal cortex enzymes, leading to an accumulation of cortisol precursors...

Background: Inhalation corticosteroids (ICS) as treatment for asthma can interfere with the hypothalamic-pituitary-adrenal axis and could lead to hypocortisolism. The frequency of this systemic side effect and the correlation to ICS usage is still unclear. Given that the cortisol excretion is pulsatile and determined by acute stress and circadian rhythms, the usefulness of tests based on momentary measures, such as saliva or serum are therefore limited. Cortisol levels measure...

Background: Characterization of testicular adrenal rest tumours (TART) are one of the major long-term complications in congenital adrenal hyperplasia (CAH) patients. Although several adrenal-like properties have been assigned to these benign lesions, the exact etiology has not been established yet.Objective and Hypotheses: The aim of this study was to analyze several (steroidogenic) characteristics of TART tissue which may be classified as adrenal cortex...

Objective: KIMS (Pfizer International Metabolic Survey) was a postmarketing surveillance study of growth hormone (GH) replacement in adults and adolescents with GH deficiency (GHD) that concluded in October 2012. This analysis aimed to evaluate the overall safety outcomes from the full cohort of GH-treated patients of KIMS.Methods: Data were collected on adults and adolescents with confirmed GHD and closed epiphyses trea...

Background: >There is a wide variation in the reported rate of acute adrenal insufficiency (AI) related adverse events (sick day episodes and adrenal crises) between centres.Objective: Evaluate the level of consensus on the criteria that should be considered ‘essential’ for defining and managing adverse events associated with acute AI in children.Methods: Three groups of ...

Background: Patients with congenital adrenal hyperplasia (CAH) are treated with life-long glucocorticoid (GC) replacement therapy. Negative effects on cognition, brain structure and function during working memory tasks have been identified. To date, no studies on functional connectivity during rest have been performed in patients with CAH. One study conducted on patients with Cushing’s syndrome, another disorder of cortisol imbalance, suggests that long-t...

Background: Short stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency, SHI) is a registered indication for growth hormone (GH) treatment. Patients with a SHOX enhancer deletion (SED) have a similar phenotype, but their response to GH is unknown. It is uncertain if duplications of SHOX or its enhancer (SDUP) can cause short stature.Objective and hypotheses: To describe the clinical characterist...