{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T08:27:31Z","timestamp":1771057651878,"version":"3.50.1"},"reference-count":6,"publisher":"The Endocrine Society","issue":"1","license":[{"start":{"date-parts":[[2024,1,2]],"date-time":"2024-01-02T00:00:00Z","timestamp":1704153600000},"content-version":"vor","delay-in-days":18,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Glucocorticoid resistance syndrome is a rare genetic condition characterized by generalized or partial target-tissue insensitivity to glucocorticoids and a consequent hyperactivation of the hypothalamic-pituitary-adrenal axis. Clinical manifestations may include mineralocorticoid and\/or androgen excess without manifestations of Cushing syndrome. At a cellular level, glucocorticoid actions are mediated by the nuclear glucocorticoid receptor encoded by the NR3C1 gene. To date, only 33 glucocorticoid receptor loss-of-function pathogenic variants have been associated with glucocorticoid resistance syndrome. The NR3C1 gene has 2 known disease-causing mechanisms: haploinsufficiency and negative dominance. We describe a mother and her son with a mild hyperandrogenic phenotype and a novel genetic variant of the NR3C1 gene predicting a truncated protein and causing glucocorticoid resistance syndrome. To date, no accurate genotype-phenotype correlation has been found.<\/jats:p>","DOI":"10.1210\/jcemcr\/luad153","type":"journal-article","created":{"date-parts":[[2024,1,2]],"date-time":"2024-01-02T14:11:56Z","timestamp":1704204716000},"source":"Crossref","is-referenced-by-count":6,"title":["The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene"],"prefix":"10.1210","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5275-4523","authenticated-orcid":false,"given":"S\u00edlvia","family":"Mauri","sequence":"first","affiliation":[{"name":"Diabetes, Endocrinology and Nutrition Unit, Hospital Universitari de Girona Dr. Josep Trueta , 17007 Girona , Spain {C}%3C!%2D%2D%7C%7CrmComment%7C%7C%3C~show%20%5BAQ%20ID%3DAQ2%5D~%3E%2D%2D%3E"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javier","family":"Nieto-Moragas","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Girona Territorial Laboratory, Parc Hospitalari Mart\u00ed Juli\u00e0, 17190 Salt (Girona) , Spain {C}%3C!%2D%2D%7C%7CrmComment%7C%7C%3C~show%20%5BAQ%20ID%3DAQ3%5D~%3E%2D%2D%3E"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Ob\u00f3n","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Girona Territorial Laboratory, Parc Hospitalari Mart\u00ed Juli\u00e0, 17190 Salt (Girona) , Spain {C}%3C!%2D%2D%7C%7CrmComment%7C%7C%3C~show%20%5BAQ%20ID%3DAQ3%5D~%3E%2D%2D%3E"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josep","family":"Oriola","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Genetics Department, CDB, Hospital Cl\u00ednic de Barcelona, Faculty of Medicine, University of Barcelona , 08036 Barcelona , Spain {C}%3C!%2D%2D%7C%7CrmComment%7C%7C%3C~show%20%5BAQ%20ID%3DAQ4%5D~%3E%2D%2D%3E"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2024,1,2]]},"reference":[{"issue":"19","key":"2024010813103936500_luad153-B1","doi-asserted-by":"crossref","first-page":"10839","DOI":"10.3390\/ijms221910839","article-title":"Primary generalized glucocorticoid resistance and hypersensitivity syndromes: a 2021 update","volume":"22","author":"Nicolaides","year":"2021","journal-title":"Int J Mol Sci"},{"issue":"1","key":"2024010813103936500_luad153-B2","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s12881-018-0552-6","article-title":"An unexpected, mild phenotype of glucocorticoid resistance associated with glucocorticoid receptor gene mutation case report and review of the literature","volume":"19","author":"Moln\u00e1r","year":"2018","journal-title":"BMC Med Genet"},{"issue":"11","key":"2024010813103936500_luad153-B3","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1093\/ajh\/hpz137","article-title":"A novel mutation in the glucocorticoid receptor gene causing resistant hypertension","volume":"32","author":"Lin","year":"2019","journal-title":"Am J Hypertens"},{"issue":"2","key":"2024010813103936500_luad153-B4","doi-asserted-by":"crossref","first-page":"R15","DOI":"10.1530\/EJE-19-0811","article-title":"Genetics in endocrinology: glucocorticoid resistance syndrome","volume":"182","author":"Vitellius","year":"2020","journal-title":"Eur J Endocrinol"},{"key":"2024010813103936500_luad153-B5","author":"Charmandari"},{"issue":"5","key":"2024010813103936500_luad153-B6","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/2\/1\/luad153\/55115041\/luad153.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/2\/1\/luad153\/55115041\/luad153.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,8]],"date-time":"2024-01-08T13:47:02Z","timestamp":1704721622000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luad153\/7504967"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,15]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,12,15]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luad153","relation":{},"ISSN":["2755-1520"],"issn-type":[{"value":"2755-1520","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,1]]},"published":{"date-parts":[[2023,12,15]]},"article-number":"luad153"}}