Endocrine Abstracts

Introduction: Macroprolactin (MacroPRL), a variant of human prolactin may interfere with hormonal assay and falsely increase serum prolactin levels. Therefore, failure to identify macroprolactinemia can lead to inappropriate investigations and treatment in women who are already susceptible to anxiety and stress. We aimed to identify macroprolactinemia among women of childbearing age with hyperprolactinemia.Materials and methods: We conducted a cross-sect...

Introduction: In patients with ACTH-dependent hypercortisolism, the corticotropin-releasing-hormone (CRH) test and the high dose dexamethasone suppression test (HDDST) can be used to differentiate between pituitary ACTH production (Cushing’s disease) and ectopic ACTH production. The rationale is that a pituitary adenoma will show some response to CRH and ACTH whereas an ectopic source is less responsive to ACTH and CRH. However, there is discussion about the clinical util...

Introduction: Burosumab, a fully human monoclonal antibody to fibroblast growth factor 23 (FGF23), is the only approved treatment for XLH, a rare genetic disorder characterized by renal phosphate wasting and substantial cumulative musculoskeletal morbidity. BUR02 (NCT03920072) is a European phase 3b open-label study monitoring the long-term safety and efficacy of burosumab in adults with XLH from sites who participated in the CL303/CL304 studies (NCT02526160/02537431).<p c...

Amiodarone is considered by many the most potent antiarrhythmic drug. The other side of the coin is that it’s associated with many side effects including disturbances in the thyroid function, which can be seen in 14 to 18 % of the cases (1). This case is about a 56-year-old male patient with a history of mitral valve disease who was on Amiodarone for 3 years. His personal history was notable with Epilepsy of unknow etiology for which he was on sodium valproate. During fol...

Adrenocortical cancer (ACC) is a rare cancer with poor prognosis and scant treatment options.Purpose: To look for new therapeutic approaches issued from the screening for common genetic variants in a large series of advanced ACC.Experimental design: Whole exome sequencing have been performed in 10 advanced (stage III and IV) ACC samples to identify the recurrent variants. The presence and the frequency of most interesting variants ...

Beyond the huge impact on physical health, coronavirus disease-19 (COVID-19) epidemic represents a significant psychological stressor, causing effects on mental health. The psychological distress of the epidemic and consequent mass quarantine on patients with hypocortisolism, particularly frail and vulnerable to infections and stress, is unknown. The current multicentre, web-survey-based, case-control study evaluated the psychological impact of COVID-19 quarantine in a large c...

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...

Background: EuRRECa (eurreca.net) is a web-based project that supports professional networks such as European Reference Networks (ERNs) in capturing standardised clinical information. The project includes an e-reporting registry (e-REC), which can be used to perform regular surveillance of specific events. Since 2018, e-REC has been used by the ERN for rare endocrine conditions (Endo-ERN) to understand the number of new clinical encounters at centres within this network.<p...

Introduction and rationale: Cushing’s syndrome (CS) is a rare disease with hypercortisolism caused either by ACTH excess from a pituitary or non-pituitary tumor or by an ACTH-independent primary adrenal overproduction of cortisol. It is associated with significant comorbidities potentially lethal: hypertension, diabetes, coagulopathy, cardiovascular disease, infections, and osteoporotic fractures. It is usually managed by surgery and/or medical treatment with steroidogene...