Endocrine Abstracts

Background: Rare variants in the melanocortin-4 receptor (MC4R) pathway are associated with early-onset, severe obesity and hyperphagia. Setmelanotide, an MC4R agonist, reduced body mass index (BMI) and decreased hunger in patients with obesity due to biallelic variants in genes encoding proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1), or leptin receptor (LEPR) in Phase 3 trials. The current analysis assesses the durability of setmelanotide ef...

Objective: Ideally, treatment strategies designed to reduce weight or body mass index in patients with obesity should reduce fat mass while preserving lean mass because reduced lean mass can negatively impact overall health and energy expenditure, thus favoring weight regain. In Phase 3 trials, 1 year of treatment with the melanocortin-4 receptor agonist setmelanotide led to weight reduction in patients with obesity due to biallelic variants in the genes encoding proopiomelano...

Introduction: Growth hormone (GH) is not only important for growth during childhood. Also, for (young) adults, growth hormone is important for bone mass, muscle strength and metabolism. GH deficiency (GHD) is a condition that can cause a broad range of adult health issues, if left untreated. Therefore on one hand, it is important to confirm and treat GHD after transfer to adult care. On the other hand, the personal and financial burden of unnecessary growth hormone in...

Introduction: Corticosteroids are amongst the most prescribed drugs and their use has been linked to cardiometabolic adverse events including weight gain and abdominal adiposity. We previously showed that users were also more likely to have the metabolic syndrome (MetS). Since an essential role in the pathway of glucocorticoid (GC) action is reserved for the glucocorticoid receptor (GR), it could be proposed that GC sensitivity altering polymorphisms could affect the vulnerabi...

Introduction: The prevalence of obesity is still increasing and is accompanied by significant health problems. High exposure to glucocorticoids, including the stress hormone cortisol, has been suggested to play a role in the development of obesity and associated cardiometabolic derangements. We previously showed that obese persons are exposed to high long-term cortisol levels as measured in scalp hair. It is not known whether these elevated cortisol levels decrease with weight...

Background The European Registries for Rare Endocrine Conditions and the European Registries for Rare Bone and Mineral Conditions were created in collaboration with the European Reference Networks for Rare Endocrine and Bone Disorders (Endo-ERN and ERN BOND). Following the onset of the COVID-19 pandemic in 2020, the registries, together with the ESE RD Committee, have collected the occurrence of confirmed and suspected cases of COVID-19 in patients with rare endocrine and bone...

Background: Endogenous Cushing’s syndrome (CS) is caused by overproduction of cortisol. Current first-line screening tests for CS can produce false positive results due to medication use and stress, rely heavily on patient adherence to sampling instructions, and only measure short-term cortisol exposure which limits sensitivity. In general multiple tests are required to establish a diagnosis. Hair cortisol concentrations (HCC) offer a minimally invasive way to measure lon...

Background: Childhood obesity is an increasing health problem, affecting over 40 million children aged 0–5 years worldwide. It is associated with premature onset of diabetes and cardiovascular disease in adulthood. Pathologically elevated cortisol is known to induce obesity and cardio-metabolic complications, suggesting cortisol is implicated in the onset of obesity. Indeed, recent pilot-studies showed an increase in hair cortisol concentrations in obese adults and adoles...

Background: Only few cases of patients with adrenal disorders affected by coronavirus disease 2019 (COVID-19) have been reported so far. In this study, clinical outcome data of patients with adrenal disorders and COVID-19 infection has been collected by the ESE Rare Disease Committee and ENDO-ERN via the European Registries for Rare Endocrine Conditions (EuRRECa) project.Methods: This questionnaire included 32 questions on collecting quantitative and qua...

Background: Congenital Adrenal Hyperplasia (CAH) requires exogenous steroid replacement and can be monitored with 17-OH Progesterone and Androstenedione. We reviewed real world data to evaluate these markers in relation to hydrocortisone dose in patients treated in 21 centres throughout 14 countries.Method: Retrospective cohort study using pseudonymised data from patients with 21α-Hydroxylase Deficiency recorded in the International Congenital Adren...