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Further investigation revealed the man\u2019s sibling had been labelled as having Cushing syndrome because of similar biochemical abnormalities. A diagnosis of familial primary generalised glucocorticoid resistance syndrome was made. Testing for mutations in the <jats:italic>NR3C1<\/jats:italic> gene is awaited.<\/jats:p>","DOI":"10.1136\/bcr-2023-258286","type":"journal-article","created":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T13:05:48Z","timestamp":1706533548000},"page":"e258286","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Hypercortisolaemia without clinical stigmata of Cushing syndrome"],"prefix":"10.1136","volume":"17","author":[{"given":"Sneha","family":"Krishna","sequence":"first","affiliation":[{"name":"Queensland Health, Brisbane, Queensland, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Morton","sequence":"additional","affiliation":[{"name":"Endocrine and Obstetric Medicine, Queensland Health, Brisbane, Queensland, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,1,29]]},"reference":[{"key":"2025082800500740000_17.1.e258286.1","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":"2025082800500740000_17.1.e258286.2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-119-11-199312010-00009"},{"key":"2025082800500740000_17.1.e258286.3","first-page":"296","article-title":"Cushing\u2019s disease preceded by generalized glucocorticoid resistance: clinical consequences of a novel, dominant-negative glucocorticoid receptor Mutation","volume":"108","author":"Karl","year":"1996","journal-title":"Proc Assoc Am Physicians"},{"key":"2025082800500740000_17.1.e258286.4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.5.2076"},{"key":"2025082800500740000_17.1.e258286.5","doi-asserted-by":"crossref","first-page":"19","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"},{"key":"2025082800500740000_17.1.e258286.6","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1507\/endocrj.EJ18-0135","article-title":"Glucocorticoid resistance syndrome caused by a novel Nr3C1 point Mutation","volume":"65","author":"Al Argan","year":"2018","journal-title":"Endocr J"},{"key":"2025082800500740000_17.1.e258286.7","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-1003"},{"key":"2025082800500740000_17.1.e258286.8","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-2463"},{"key":"2025082800500740000_17.1.e258286.9","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-16-0467"},{"key":"2025082800500740000_17.1.e258286.10","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-0125"},{"key":"2025082800500740000_17.1.e258286.11","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1159\/000342505","article-title":"Primary generalized familial and sporadic glucocorticoid resistance (Chrousos syndrome) and hypersensitivity","volume":"24","author":"Charmandari","year":"2013","journal-title":"Endocr Dev"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-258286","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T07:50:14Z","timestamp":1756367414000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-258286"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":11,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,1,29]]},"published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1136\/bcr-2023-258286"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-258286","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,1]]}}}