{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T21:03:24Z","timestamp":1789592604749,"version":"build-2803163510"},"reference-count":40,"publisher":"Oxford University Press (OUP)","issue":"2","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2017,8]]},"abstract":"\n Context<\/jats:title>\n \n Carney complex (CNC) is an autosomal dominant condition caused, in most cases, by an inactivating mutation of the\n PRKAR1A<\/jats:italic>\n gene, which encodes for the type 1 alpha regulatory subunit of protein kinase A. CNC is characterized by the occurrence of endocrine overactivity, myxomas and typical skin manifestations. Cushing syndrome due to primary pigmented nodular adrenocortical disease (PPNAD) is the most frequent endocrine disease observed in CNC.\n <\/jats:p>\n <\/jats:sec>\n \n Case description<\/jats:title>\n \n Here, we describe the first case of a patient with CNC and adrenocorticotropic hormone (ACTH)-dependent Cushing disease due to a pituitary corticotroph adenoma. Loss-of-heterozygosity analysis of the pituitary tumour revealed loss of the wild-type copy of\n PRKAR1A<\/jats:italic>\n , suggesting a role of this gene in the pituitary adenoma development.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n PRKAR1A<\/jats:italic>\n loss-of-function mutations can rarely lead to ACTH-secreting pituitary adenomas in CNC patients. Pituitary-dependent disease should be considered in the differential diagnosis of Cushing syndrome in CNC patients.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1530\/eje-17-0227","type":"journal-article","created":{"date-parts":[[2017,5,18]],"date-time":"2017-05-18T20:50:20Z","timestamp":1495140620000},"page":"K7-K12","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":46,"title":["PRKAR1A mutation causing pituitary-dependent Cushing disease in a patient with Carney complex"],"prefix":"10.1093","volume":"177","author":[{"given":"Florian W","family":"Kiefer","sequence":"first","affiliation":[{"name":"1Clinical Division of Endocrinology and Metabolism, Department of Medicine III, Medical University of Vienna, Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne","family":"Winhofer","sequence":"additional","affiliation":[{"name":"1Clinical Division of Endocrinology and Metabolism, Department of Medicine III, Medical University of Vienna, Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donato","family":"Iacovazzo","sequence":"additional","affiliation":[{"name":"2Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1rta","family":"Korbonits","sequence":"additional","affiliation":[{"name":"2Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Wolfsberger","sequence":"additional","affiliation":[{"name":"3Department of Neurosurgery, Medical University of Vienna, Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Engelbert","family":"Knosp","sequence":"additional","affiliation":[{"name":"3Department of Neurosurgery, Medical University of Vienna, Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franz","family":"Trautinger","sequence":"additional","affiliation":[{"name":"4Department of Dermatology and Venereology, Karl Landsteiner University of Health Sciences, St P\u00f6lten, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romana","family":"H\u00f6ftberger","sequence":"additional","affiliation":[{"name":"5Institute of Neurology, Medical University of Vienna, Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Krebs","sequence":"additional","affiliation":[{"name":"1Clinical Division of Endocrinology and Metabolism, Department of Medicine III, Medical University of Vienna, Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anton","family":"Luger","sequence":"additional","affiliation":[{"name":"1Clinical Division of Endocrinology and Metabolism, Department of Medicine III, Medical University of Vienna, Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alois","family":"Gessl","sequence":"additional","affiliation":[{"name":"1Clinical Division of Endocrinology and Metabolism, Department of Medicine III, Medical University of Vienna, Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"key":"ref221","doi-asserted-by":"crossref","first-page":"4041","DOI":"10.1210\/jcem.86.9.7903","article-title":"Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation","volume":"86","year":"2001","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1159\/000095527","article-title":"Carney complex: pathology and molecular genetics","volume":"83","year":"2006","journal-title":"Neuroendocrinology"},{"key":"ref291","first-page":"85","article-title":"CorreaRSalpeaPStratakisCA complex 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update","volume":"31","year":"2010","journal-title":"Human Mutations"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1136\/hrt.35.8.874","article-title":"Lentiginosis and left atrial myxoma","volume":"35","year":"1973","journal-title":"British Heart Journal"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"2381","DOI":"10.1021\/cr000236l","article-title":"Physiological substrates of cAMP-dependent protein kinase","volume":"101","year":"2001","journal-title":"Chemical Reviews"}],"container-title":["European Journal of 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