Searchable abstracts of presentations at key conferences in endocrinology

ea0081p146 | Pituitary and Neuroendocrinology | ECE2022

Central Diabetes Insipidus, family report, molecular study, and its importance

Filipe Sa Luis , Sousa Rafaela , Villela Darine , Cavalcanti Thereza , Migliavacca Michele , Fontes Rosita , Guimaraes Marilia , Souza Micheline , Coelho Paula , Botelho Mariana , Nascimento Joao , Carvallo Mirna , Viveiros Pedro , Lourenco Jr Delmar , Naliato Erika , Violante Alice

Introduction: Central diabetes insipidus (CDI) occurs due to deficient secretion of arginine vasopressin (AVP) or antidiuretic hormone (ADH) by the posterior pituitary. It is a rare disease with an estimated prevalence of 1:25000. CDI can be acquired or congenital, secondary to malformation or genetics. Familial CDI (genetic inheritance) is mainly autosomal dominant. More than 80 mutations in the AVP gene have been described. In hereditary CDI, the age of onset is variable. Sy...