Endocrine Abstracts

Background: Registries are of key importance for a centre of expertise. Endo-ERN consists of 71 reference centres (RCs) that cover several groups of rare endocrine conditions within 8 themes (www.endo-ern.eu). It is unclear if awareness, participation and availability of registries is uniform for all conditions within Endo-ERN.Objective: To determine the extent of engagement in registries of Endo-ERN members.Methods: Endo-ERN RC le...

Introduction: Allogeneic bone marrow transplantation (BMT) represents the only effective approach to the cure of thalassemia major, offering high rates of success especially in a pediatric setting. Endocrine complications are expected in these patients due to both primary disease and BMT process. Iron overload, desferrioxamine treatment, cytotoxic agents used in the preparative regimen, and posttransplant immunosuppression period contribute to various endocrine disorders.<...

Background and Objective: Congenital adrenal hyperplasia (CAH) is one of the most common diseases in pediatric endocrinology. Non-classical (NC-CAH) forms are characterized by milder enzyme dysfunction and manifests commonly in adolescence or adulthood. The most frequent form of NC-CAH occurs due to 21-hydroxylase deficiency which is caused by defects in the CYP21A2 gene. Our aim was to describe the most common 21-hydroxylase gene (CYP21A2) mutations in our geographical area i...