Endocrine Abstracts

IntroductionThe European Registries for Rare Endocrine Conditions (EuRRECa) project was launched in February 2018 and aims to support the needs of the endocrine and bone community by facilitating the collaboration between patients, health care professionals and researchers across Europe and beyond. It is closely linked to the European Reference Networks on Rare Endocrine Conditions (Endo-ERN) and Rare Bone Diseases (ERN BOND) with its registry EuRR-Bone....

Background: The Congenital adrenal Hyperplasia (CAH) Adult Study Executive (CaHASE) identified poor metabolic outcomes and reduced quality of life in CAH. CaHASE2 was recently established to examine the current status of CAH care. We surveyed clinical practice in the UK and Ireland, and awareness and use of the International CAH (I-CAH) Registry.Methods: We undertook an anonymised online survey targeting clinicians provi...

Introduction: Monitoring glucocorticoid (GC) replacement in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) remains challenging. There are disease-specific patterns in the plasma and urinary steroid profiles in 21OHD, a key role being played by the 11-oxygenatedC19 androgens. Aim: To explore the urinary steroid profile in 21OHD in relation to treatment and plasma steroids. Methods: Partic...

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) is a rare condition that is associated with life long risk of adrenal crisis. Management of CAH demands a fine balance between excess glucocorticoid leading to adverse effects and too little glucocorticoid risking adrenal crises. Frequent occurrence of sick day episodes warrants dose adjustment and education regarding adrenal crisis. In a condition such as CAH it is difficult to collect sufficient data from small cohorts at a si...

Introduction: Monitoring of hormonal control represents a key part in the management of congenital adrenal hyperplasia (CAH). It remains suboptimal and relies on frequent blood tests, which are traumatising in children and young persons (CYP). Recent evidence suggests a crucial role of adrenal-derived 11-oxygenatedC19 androgens in the pathogenesis of CAH. Therefore, we aimed to establish a non-invasive test for monitoring of adrenal-specific androgens in CAH.<p class="abst...

Introduction: There is some variation in the practice of gonadectomy for individuals with Differences of Sex Development (DSD) worldwide. This quality improvement project aims to undertake continued surveillance of the occurrence of gonadectomy in suspected or confirmed cases of DSD.Methods: Participating centres from the International-DSD Registry are sent a monthly email asking if a gonadectomy has been performed. A se...

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community.Aim: To describe the patient population and data entered in the EuRRECa Core Registry between June 2019 and December 2021.<p class...

Background: Congenital adrenal hyperplasia (CAH) and long-term glucocorticoid treatment may be associated with an increased risk of developing cardiometabolic sequelae such as abnormal glucose homeostasis, hyperlipidaemia, hypertension, cardiovascular (CV) disease, obesity and osteoporosis.Objectives: To study the current practice amongst expert centres for assessing cardiometabolic outcomes in adult patients with 21-hydroxylase CAH and to assess the pre...

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community. The Core Registry, one of its platforms, enables the collection of longitudinal patient and clinician reported outcomes. A module collecting aspects of the ...