Searchable abstracts of presentations at key conferences in endocrinology

ea0097012 | Section | BES2023

Endocrine manifestations in 22q11.2 deletion syndrome: a retrospective single center cohort study

Eva Soubry , Karel David , Ann Swillen , Elfi Vergaelen , Op de Beeck Marie Docx , Margo Hulsmans , Sara Charleer , Brigitte Decallonne

Introduction and objective: Patients with the 22q11.2 deletion syndrome (22q11DS) frequently display cardiological and psychiatric diseases, but are also at increased risk for endocrine manifestations. The aim of this study was to evaluate the screening, prevalence, and management of hypoparathyroidism and thyroid disease in patients with 22q11DS, to evaluate the metabolic profile and to compare these results with current literature and guidelines.<p class...