ESPE Abstracts

Background: There is a paucity of information on the utilisation of hospital services by children and adolescents with adrenal insufficiency (AI) and hypopituitarism.Objective and hypotheses: To determine the number of episodes of hospitalisation in children with adrenal insufficiency (AI) and hypopituitarism in Australia, and to analyse trends in these admissions.Method: An analysis of all admissions to Australian hospitals in pat...

Background: Adrenal insufficiency (AI) is a rare disorder in the paediatric population. Patients are at risk of an adrenal crisis (AC), which comprises hypotension, acute abdominal symptoms, reduced consciousness, hypoglycaemia, hyperkalaemia and hyponatremia. Immediate administration of parenteral hydrocortisone is essential to prevent AC progression but delays may occur when health attendants are unaware of the underlying AI diagnosis. Medical jewellery is a...

Background: Congenital adrenal hyperplasia (CAH), due to 21-hydroxylase deficiency is one of the most common monogenic autosomal recessive disorders with an incidence of one in 15 000, and even more common in some populations. Do carriers have a survival advantage?Objective and hypotheses: The HPA axis has been reported to be more active in CYP21A2 carriers, and possibly enable a more rapid return to homeostasis. A compensatory increase in CRH s...

Background: Congenital adrenal hyperplasia (CAH) is a relatively common monogenic recessive disorder with an incidence of 1/15 000 in most populations. It has been suggested that CYP21A2 deficiency is relatively common because it may confer a survival advantage to be a carrier. Carriers of CYP21A2 mutations typically do not have clinical symptoms but have a defined phenotype. The cortisol response to ACTH stimulation has been shown to be both...

Background: An adrenal crisis (AC) is a life-threatening complication of congenital adrenal hyperplasia (CAH). Despite modern therapies, children with CAH still present with symptomatic adrenal insufficiency (AI) and AC.Objective and hypotheses: The aim of the study was to determine the spectrum of symptoms and signs of AI in children with diagnosed CAH who were admitted to hospital for an acute illness, as well as to evaluate the use of stress dosing an...

Background: Clinical outcome data of patients with adrenal insufficiency, who were affected by COVID-19, have been collected as a common initiative by the ESE Rare Disease Committee and ENDO-ERN via the European Registries for Rare Endocrine Conditions (EuRRECa) project. Methods: This Webropol-based questionnaire included a total of 32 questions collecting quantitative and qualitative data. Of the 19 medical centres out ...

Introduction: Following the onset of the COVID-19 pandemic in early spring 2020, there was a need to identify the burden of this infection on people with rare endocrine conditions. The European Registries For Rare Endocrine Conditions (EuRRECa) was launched in 2018 in collaboration with Endo-ERN, ESPE and ESE to support the needs of the wider endocrine community. The project consists of an e-reporting (e-REC) platform that allows monthly reporting of new clini...

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-hyd...