ESPE Abstracts

Glucocorticoid resistance syndrome (GRS) is a rare genetic disorder caused by inactivating mutations of the NR3C1 gene encoding the glucocorticoid receptor. The phenotypic spectrum is broad but typically includes symptoms of adrenal insufficiency, mineralocorticoid excess and hyperandrogenism. So far, about 20 different mutations in NR3C1 presenting with the GRS phenotype have been reported.We report a 13-year-old girl that presented wi...