{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:16Z","timestamp":1784557036644,"version":"3.55.0"},"reference-count":20,"publisher":"Bioscientifica","license":[{"start":{"date-parts":[[2019,3,21]],"date-time":"2019-03-21T00:00:00Z","timestamp":1553126400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,3,21]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    Carney complex (CNC) is a rare multiple neoplasia syndrome characterized by spotty pigmentation of the skin and mucosa in association with various non-endocrine and endocrine tumors, including primary pigmented nodular adrenocortical disease (PPNAD). A 20-year-old woman was referred for suspected Cushing syndrome. She had signs of cortisol excess as well as skin lentigines on physical examination. Biochemical investigation was suggestive of corticotropin (ACTH)-independent Cushing syndrome. Unenhanced computed tomography scan of the abdomen did not reveal an obvious adrenal mass. She subsequently underwent bilateral laparoscopic adrenalectomy, and histopathology was consistent with PPNAD. Genetic testing revealed a novel frameshift pathogenic variant c.488delC\/p.Thr163MetfsX2 (ClinVar Variation ID: 424516) in the\n                    <jats:italic>PRKAR1A<\/jats:italic>\n                    gene, consistent with clinical suspicion for CNC. Evaluation for other clinical features of the complex was unrevealing. We present a case of PPNAD-associated Cushing syndrome leading to the diagnosis of CNC due to a novel\n                    <jats:italic>PRKAR1A<\/jats:italic>\n                    pathogenic variant.\n                  <\/jats:p>\n                  <jats:sec>\n                    <jats:title>Learning points:<\/jats:title>\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>PPNAD should be considered in the differential for ACTH-independent Cushing syndrome, especially when adrenal imaging appears normal.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>The diagnosis of PPNAD should prompt screening for CNC.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>\n                          CNC is a rare multiple neoplasia syndrome caused by inactivating pathogenic variants in the\n                          <jats:italic>PRKAR1A<\/jats:italic>\n                          gene.\n                        <\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Timely diagnosis of CNC and careful surveillance can help prevent potentially fatal complications of the disease.<\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:sec>","DOI":"10.1530\/edm-18-0150","type":"journal-article","created":{"date-parts":[[2019,3,21]],"date-time":"2019-03-21T08:10:52Z","timestamp":1553155852000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":5,"title":["Cushing syndrome: uncovering Carney complex due to novel PRKAR1A mutation"],"prefix":"10.1530","volume":"2019","author":[{"given":"Catherine D","family":"Zhang","sequence":"first","affiliation":[{"name":"1Departments of Internal Medicine, Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, Minnesota, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pavel N","family":"Pichurin","sequence":"additional","affiliation":[{"name":"2Departments of Clinical Genomics, Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, Minnesota, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleh","family":"Bobr","sequence":"additional","affiliation":[{"name":"3Departments of Laboratory Medicine and Pathology, Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, Minnesota, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie L","family":"Lyden","sequence":"additional","affiliation":[{"name":"4Departments of Surgery, Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, Minnesota, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William F","family":"Young","sequence":"additional","affiliation":[{"name":"5Departments of Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, Minnesota, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Bancos","sequence":"additional","affiliation":[{"name":"5Departments of Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, Minnesota, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref91","doi-asserted-by":"crossref","first-page":"1943","DOI":"10.1210\/jc.2005-2708","article-title":"A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds","volume":"91","year":"2006","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"585","DOI":"10.7326\/0003-4819-131-8-199910190-00006","article-title":"Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical 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