{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T20:59:12Z","timestamp":1771275552971,"version":"3.50.1"},"reference-count":17,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome with an increased risk of cancer. Most BWS patients show a molecular defect in the 11p15 region that contains imprinted genes. BWS has been associated with malignant neoplasms during infancy. Descriptions of benign tumors, especially in adult patients, are rarer. &lt;b&gt;&lt;i&gt;Methods\/Results:&lt;\/i&gt;&lt;\/b&gt; We report the case of a BWS patient with pituitary adenoma caused by loss of methylation (LOM) at ICR2 (locus &lt;i&gt;CDKN1C&lt;\/i&gt;\/&lt;i&gt;KCNQ1OT1&lt;\/i&gt;). The patient was referred to an endocrinology unit for suspicion of Cushing's disease due to a history of macroglossia and hemihyperplasia. Biological tests led to the diagnosis of ACTH-dependent hypercortisolism. MRI showed a microadenoma of the pituitary gland, confirming the diagnosis of Cushing's disease. DNA methylation analysis revealed LOM at ICR2 that was in a mosaic state in the patient's leukocytes, but was present in nearly all cells of the pituitary adenoma. The epigenetic defect was associated with a somatic &lt;i&gt;USP8&lt;\/i&gt; mutation in the adenoma. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; Pituitary adenoma rarely occurs in patients with BWS. However, BWS should be considered in cases of pituitary adenoma with minor and\/or major signs of BWS. The association between ICR2 LOM and &lt;i&gt;USP8&lt;\/i&gt; mutation in the adenoma is questionable.<\/jats:p>","DOI":"10.1159\/000446435","type":"journal-article","created":{"date-parts":[[2016,6,2]],"date-time":"2016-06-02T21:02:24Z","timestamp":1464901344000},"page":"206-211","source":"Crossref","is-referenced-by-count":12,"title":["Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome"],"prefix":"10.1159","volume":"86","author":[{"given":"Frederic","family":"Brioude","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carole","family":"Nicolas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Marey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephan","family":"Gaillard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mich\u00e8le","family":"Bernier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Das Neves","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Le Bouc","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Touraine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Netchine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2016,6,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1159\/000355544"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1097\/MED.0000000000000037"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.88"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1186\/1868-7083-6-11"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-1453"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3166"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1530\/ERC-11-0059"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21403"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/cr.2015.20"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2014.181"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1530\/ERC-12-0251"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1158\/1541-7786.MCR-11-0220"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01885-08"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1186\/s13148-015-0143-8"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2013.09.006"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000515)92:2<111::AID-AJMG6>3.3.CO;2-C"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.046854"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/446435","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/446435","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/446435","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:07:33Z","timestamp":1745431653000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000446435"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":17,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2016,10,31]]},"published-print":{"date-parts":[[2016,11,8]]}},"URL":"https:\/\/doi.org\/10.1159\/000446435","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]}}}