Searchable abstracts of presentations at key conferences in endocrinology

ea0049gp7 | Adrenal 1 | ECE2017

Identification of a new glucocorticoid receptor mutation underscores the substantial prevalence of genetic NR3C1 alterations in adrenal hyperplasia: the French National Research Program MUTA-GR

Vitellius Geraldine , Delemer Brigitte , Caron Philippe , Bennet Antoine , Bouligand Jerome , Guiochon-Mantel Anne , Viengchareun Say , Dani Christian , Trabado Severine , Lombes Marc

Primary generalized glucocorticoid resistance is characterized by glucocorticoid excess without any Cushing syndrome. Patients exhibit variable clinical presentation including arterial hypertension, hirsutism or adrenal hyperplasia. Although glucocorticoid resistance has been associated with glucocorticoid receptor (GR) mutations (encoded by NR3C1 gene), only 23 mutations have been reported so far. We have conducted a French National Research Program, referred to as M...