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Mutations within the glucocorticoid receptor (GR) can cause glucocorticoid resistance, which is characterized by several clinical features like hypercortisolism, hypokalaemia, adrenal hyperplasia and hypertension. Altered glucocorticoid receptor signalling further affects sodium and potassium homeostasis as well as blood pressure regulation and cell proliferation and differentiation that influence organ development and function. In salt-sensitive hypertension, excessive renal salt transport and sympathetic nervous system stimulation may occur simultaneously, and, thus, both the mineralocorticoid receptor (MR) and the GR-signalling may be implicated or even act interdependently. This review focuses on identified GR mutations in human primary generalized glucocorticoid resistance (PGGR) patients and their related clinical phenotype with specific emphasis on adrenal gland hyperplasia and hypertension. We compare these findings to mouse and rat mutants harbouring genetically engineered mutations to further dissect the cause and\/or the consequence of clinical features which are common or different.<\/jats:p>","DOI":"10.1007\/s00424-022-02715-6","type":"journal-article","created":{"date-parts":[[2022,6,22]],"date-time":"2022-06-22T21:14:26Z","timestamp":1655932466000},"page":"829-840","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Role of glucocorticoid receptor mutations in hypertension and adrenal gland hyperplasia"],"prefix":"10.1007","volume":"474","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2297-2738","authenticated-orcid":false,"given":"Sophia","family":"Verouti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3887-2715","authenticated-orcid":false,"given":"Edith","family":"Hummler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8581-8471","authenticated-orcid":false,"given":"Paul-Emmanuel","family":"Vanderriele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,6,22]]},"reference":[{"key":"2715_CR1","doi-asserted-by":"publisher","first-page":"1139","DOI":"10.1507\/endocrj.EJ18-0135","volume":"65","author":"R Al Argan","year":"2018","unstructured":"Al Argan R, Saskin A, Yang JW, D\u2019Agostino MD, Rivera J (2018) Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutation. 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