{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T05:05:26Z","timestamp":1793595926374,"version":"4.5.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,2,6]],"date-time":"2023-02-06T00:00:00Z","timestamp":1675641600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,2,6]],"date-time":"2023-02-06T00:00:00Z","timestamp":1675641600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Endocr Disord"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome characterized by mucocutaneous lentigines\/ blue nevi, cardiac myxoma and endocrine overactivity. Here, we report a CNC case with <jats:italic>PRKAR1A<\/jats:italic> gene mutation characterized by left atrial adenomyxoma to explore the diagnosis and treatment of CNC.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 42-year-old woman with a history of cardiac tumour surgery presented with typical features of Cushing syndrome, including central obesity, buffalo hump, mild facial plethora, purple striae on the lower abdomen, and spotty skin pigmentation. Left atrial adenomyxoma and thyroid papillary carcinoma were identified by postoperative histologic assays. Genetic screening revealed a pathogenic germline heterozygous mutation of c.682C\u2009&gt;\u2009T (p.R228X) in exon 7 of the <jats:italic>PRKAR1A<\/jats:italic> gene. The clinical features and normal ACTH levels suggest this patient suffered the ACTH-independent primary pigmented nodular adrenocortical disease (PPNAD) with cyclic hypercortisolism or ACTH-dependent Cushing syndrome.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>CNC is uncommon, however, if a patient develops clinical features involving multiple endocrine and non-endocrine tumors, especially Cushing syndrome and cardiac myxoma, CNC should be considered. Genetic analysis is recommended in patients with suspected CNC.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12902-023-01285-7","type":"journal-article","created":{"date-parts":[[2023,2,6]],"date-time":"2023-02-06T04:31:48Z","timestamp":1675657908000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A case report and literature review of Carney complex with atrial adenomyxoma"],"prefix":"10.1186","volume":"23","author":[{"given":"Jing","family":"Xu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meng","family":"Ye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Po","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shujing","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miao","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lixin","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6441-9201","authenticated-orcid":false,"given":"Juan","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,2,6]]},"reference":[{"issue":"4","key":"1285_CR1","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1097\/00005792-198507000-00007","volume":"64","author":"JA Carney","year":"1985","unstructured":"Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine. 1985;64(4):270\u201383.","journal-title":"Medicine"},{"issue":"9","key":"1285_CR2","doi-asserted-by":"publisher","first-page":"4041","DOI":"10.1210\/jcem.86.9.7903","volume":"86","author":"CA Stratakis","year":"2001","unstructured":"Stratakis CA, Kirschner LS, Carney JA. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab. 2001;86(9):4041\u20136.","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"1285_CR3","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1038\/79238","volume":"26","author":"LS Kirschner","year":"2000","unstructured":"Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet. 2000;26(1):89\u201392.","journal-title":"Nat Genet"},{"issue":"12","key":"1285_CR4","doi-asserted-by":"publisher","first-page":"847","DOI":"10.1016\/S2213-8587(21)00235-7","volume":"9","author":"M Fleseriu","year":"2021","unstructured":"Fleseriu M, Auchus R, Bancos I, Ben-Shlomo A, Bertherat J, Biermasz NR, Boguszewski CL, Bronstein MD, Buchfelder M, Carmichael JD, et al. Consensus on diagnosis and management of Cushing\u2019s disease: a guideline update. Lancet Diabetes Endocrinol. 2021;9(12):847\u201375.","journal-title":"Lancet Diabetes Endocrinol"},{"issue":"2\u201303","key":"1285_CR5","first-page":"156","volume":"127","author":"CDC Kamilaris","year":"2019","unstructured":"Kamilaris CDC, Faucz FR, Voutetakis A, Stratakis CA. Carney Complex. 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MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene. Eur J Endocrinol. 2021;184(3):R99-r109.","journal-title":"Eur J Endocrinol"},{"issue":"3","key":"1285_CR8","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1089\/thy.2008.0404","volume":"19","author":"N Courcoutsakis","year":"2009","unstructured":"Courcoutsakis N, Patronas N, Filie AC, Carney JA, Moraitis A, Stratakis CA. Ectopic thymus presenting as a thyroid nodule in a patient with the Carney complex. Thyroid. 2009;19(3):293\u20136.","journal-title":"Thyroid"},{"issue":"2","key":"1285_CR9","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1097\/PAS.0000000000000748","volume":"41","author":"KM Lowe","year":"2017","unstructured":"Lowe KM, Young WF Jr, Lyssikatos C, Stratakis CA, Carney JA. Cushing Syndrome in Carney Complex: Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients. 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Hormone research in paediatrics. 2018;89(6):423\u201333.","journal-title":"Hormone research in paediatrics"},{"issue":"2","key":"1285_CR16","doi-asserted-by":"publisher","first-page":"K7","DOI":"10.1530\/EJE-17-0227","volume":"177","author":"FW Kiefer","year":"2017","unstructured":"Kiefer FW, Winhofer Y, Iacovazzo D, Korbonits M, Wolfsberger S, Knosp E, Trautinger F, H\u00f6ftberger R, Krebs M, Luger A, et al. PRKAR1A mutation causing pituitary-dependent Cushing disease in a patient with Carney complex. Eur J Endocrinol. 2017;177(2):K7-k12.","journal-title":"Eur J Endocrinol"},{"issue":"7","key":"1285_CR17","doi-asserted-by":"publisher","first-page":"918","DOI":"10.1210\/js.2017-00231","volume":"1","author":"LC Hern\u00e1ndez-Ram\u00edrez","year":"2017","unstructured":"Hern\u00e1ndez-Ram\u00edrez LC, Tatsi C, Lodish MB, Faucz FR, Pankratz N, Chittiboina P, Lane J, Kay DM, Vald\u00e9s N, Dimopoulos A, et al. Corticotropinoma as a Component of Carney Complex. 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Informed consent to participate was obtained from the patient. As the two children were under the age of 18, their informed consents were obtained from their mother (the patient).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient for the publication of any related images or data included in this manuscript. Because the two children were under the age of 18, their consents for the publication of any related images and data were obtained from their parent (the patient).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"35"}}