{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,15]],"date-time":"2024-09-15T23:53:10Z","timestamp":1726444390616},"reference-count":11,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,2,25]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing\u2019s syndrome (CS). It may occur sporadically or as part of a familial syndrome called Carney complex (CC). It is a rare entity, with fewer than 750 cases reported.<\/jats:p>\n <\/jats:sec>\n \n Case presentation<\/jats:title>\n We describe the case of a 16-year-old otherwise healthy female referred to our endocrinology department for progressive weight gain. During investigation, an adrenocorticotropic hormone (ACTH) independent CS was identified and the possibility of an adrenocortical tumor was suggested. The histological exam of the left adrenal gland was compatible with PPNAD. Genetic study identified a novel pathogenic variant in the PRKAR1A<\/jats:italic> gene. Her family history was then reviewed and her father had died prematurely due to a cardiac myxoma. Besides abnormal skin pigmentation, the girl presented no other features of CC.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n Careful follow-up of these patients is important to detect other manifestations of CC and to prevent life-threatening comorbidities, like cardiac myxomas or malignant diseases. Genetic counseling of the patients and their siblings is also very important.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2018-0199","type":"journal-article","created":{"date-parts":[[2019,1,30]],"date-time":"2019-01-30T09:49:43Z","timestamp":1548841783000},"page":"197-202","source":"Crossref","is-referenced-by-count":4,"title":["Carney complex due to a novel pathogenic variant in the PRKAR1A<\/i> gene \u2013 a case report"],"prefix":"10.1515","volume":"32","author":[{"given":"Sofia H.","family":"Ferreira","sequence":"first","affiliation":[{"name":"Department of Pediatrics of Centro Hospitalar de S\u00e3o Jo\u00e3o , Porto , Portugal"}]},{"given":"Maria M.","family":"Costa","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , Diabetes and Metabolism of Centro Hospitalar de S\u00e3o Jo\u00e3o , Porto , Portugal"}]},{"given":"Elisabete","family":"Rios","sequence":"additional","affiliation":[{"name":"Department of Pathology of Centro Hospitalar de S\u00e3o Jo\u00e3o , Porto , Portugal"}]},{"given":"Rita","family":"Santos Silva","sequence":"additional","affiliation":[{"name":"Department of Pediatrics of Centro Hospitalar de S\u00e3o Jo\u00e3o , Porto , Portugal"}]},{"given":"Carla","family":"Costa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics of Centro Hospitalar de S\u00e3o Jo\u00e3o , Porto , Portugal"}]},{"given":"C\u00edntia","family":"Castro-Correia","sequence":"additional","affiliation":[{"name":"Department of Pediatrics of Centro Hospitalar de S\u00e3o Jo\u00e3o , Porto , Portugal"}]},{"given":"Manuel","family":"Fontoura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics of Centro Hospitalar de S\u00e3o Jo\u00e3o , Porto , Portugal"}]}],"member":"374","published-online":{"date-parts":[[2019,1,30]]},"reference":[{"key":"2023040100395058282_j_jpem-2018-0199_ref_001_w2aab2b8c10b1b7b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Manipadam MT, Abraham R, Sen S, Simon A. Primary pigmented nodular adrenocortical disease. J Indian Assoc Pediatr Surg 2011;16:160\u20132.","DOI":"10.4103\/0971-9261.86881"},{"key":"2023040100395058282_j_jpem-2018-0199_ref_002_w2aab2b8c10b1b7b1ab2b1b2Aa","doi-asserted-by":"crossref","unstructured":"Stratakis CA. Cushing syndrome in pediatrics. Endocrinol Metab Clin North Am 2012;41:793\u2013803.","DOI":"10.1016\/j.ecl.2012.08.002"},{"key":"2023040100395058282_j_jpem-2018-0199_ref_003_w2aab2b8c10b1b7b1ab2b1b3Aa","doi-asserted-by":"crossref","unstructured":"Choi KM, Seu JH, Kim YH, Lee EJ, Kim SJ, et al. Cushing\u2019s syndrome due to primary pigmented nodular adrenocortical disease \u2013 a case report reviews of the literature. Korean J Intern Med 1995;10:68\u201372.","DOI":"10.3904\/kjim.1995.10.1.68"},{"key":"2023040100395058282_j_jpem-2018-0199_ref_004_w2aab2b8c10b1b7b1ab2b1b4Aa","unstructured":"Hamza E, Hadjkacem F, Ghorbel D, Mnif F, Rekik N, et al. Cushing\u2019s syndrome revealing Carney complex: a case report. Endocrinol Metab Int J 2017;5:00132."},{"key":"2023040100395058282_j_jpem-2018-0199_ref_005_w2aab2b8c10b1b7b1ab2b1b5Aa","doi-asserted-by":"crossref","unstructured":"Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine 1985;64:270\u201383.","DOI":"10.1097\/00005792-198507000-00007"},{"key":"2023040100395058282_j_jpem-2018-0199_ref_006_w2aab2b8c10b1b7b1ab2b1b6Aa","doi-asserted-by":"crossref","unstructured":"Bertherat J. Carney complex (CNC). Orphanet J Rare Dis 2006;1:21.","DOI":"10.1186\/1750-1172-1-21"},{"key":"2023040100395058282_j_jpem-2018-0199_ref_007_w2aab2b8c10b1b7b1ab2b1b7Aa","doi-asserted-by":"crossref","unstructured":"Grande L, Mart\u00ednez AK, Boillos G. Carney complex. Endocrinol Nutr 2011;58:308\u201314.","DOI":"10.1016\/S2173-5093(11)70064-2"},{"key":"2023040100395058282_j_jpem-2018-0199_ref_008_w2aab2b8c10b1b7b1ab2b1b8Aa","doi-asserted-by":"crossref","unstructured":"Correa R, Salpea P, Stratakis CA. Carney complex: an update. Eur J Endocrinol 2015;173:M85\u201397.","DOI":"10.1530\/EJE-15-0209"},{"key":"2023040100395058282_j_jpem-2018-0199_ref_009_w2aab2b8c10b1b7b1ab2b1b9Aa","unstructured":"Genetics Home Reference. Carney complex. Available at: https:\/\/ghr.nlm.nih.gov\/condition\/carney-complex. Accessed on: February 24, 2018."},{"key":"2023040100395058282_j_jpem-2018-0199_ref_010_w2aab2b8c10b1b7b1ab2b1c10Aa","doi-asserted-by":"crossref","unstructured":"Horvath A, Bertherat J, Groussin L, Guillaud-Bataille M, Tsang K, et al. Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. Hum Mutat 2010:31:369\u201379.","DOI":"10.1002\/humu.21178"},{"key":"2023040100395058282_j_jpem-2018-0199_ref_011_w2aab2b8c10b1b7b1ab2b1c11Aa","doi-asserted-by":"crossref","unstructured":"Siordia JA. Medical and surgical management of Carney complex. J Card Surg 2015;30:560\u20137.","DOI":"10.1111\/jocs.12575"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/jpem.2019.32.issue-2\/jpem-2018-0199\/jpem-2018-0199.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2018-0199\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2018-0199\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T16:07:29Z","timestamp":1680365249000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2018-0199\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,30]]},"references-count":11,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2019,1,26]]},"published-print":{"date-parts":[[2019,2,25]]}},"alternative-id":["10.1515\/jpem-2018-0199"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2018-0199","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"type":"electronic","value":"2191-0251"},{"type":"print","value":"0334-018X"}],"subject":[],"published":{"date-parts":[[2019,1,30]]}}}