by Jacqueline van der Blom | Dec 3, 2025 | Publication
Background Transition from paediatric to adult care is a critical period for patients with rare endocrine diseases, including pituitary disorders. Limited data are available on the transition process, clinical characteristics, and outcomes of young people with...by Jacqueline van der Blom | Oct 6, 2025 | Publication
Background This study presents the development and first results of the Gender Incongruence (GI) module within EuRREB. The module was designed to collect standardized, multicentre data on individuals with gender incongruence (GI) across Europe. It includes five key...by Jacqueline van der Blom | Jul 7, 2025 | Publication
Background Melorheostosis is a rare skeletal and connective tissue disorder with an estimated prevalence of approximately 1 per 1,100,000 individuals. Due to its rarity, clinical knowledge, natural history, and understanding of disease progression remain limited. A...by Jacqueline van der Blom | May 8, 2025 | Publication
Background Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare and complex disorder caused by postzygotic variants affecting the GNAS gene. The clinical presentation is highly variable, ranging from isolated bone involvement to multisystem disease with...by sabine | Jul 26, 2024 | Publication
Background Rare bone and mineral diseases are characterised by limited available evidence, small patient populations, and a need for specialised multidisciplinary care. European Reference Networks (ERNs) provide a framework to improve collaboration between expert...by sabine | May 7, 2024 | Publication
Background Patients with Cushing syndrome (CS) have an increased risk of venous thromboembolism (VTE). However, evidence regarding the occurrence of VTE and current thromboprophylaxis strategies in patients with CS remains limited due to the rarity of the condition...