{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T05:09:15Z","timestamp":1784005755258,"version":"3.55.0"},"reference-count":24,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"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":[[2019]]},"abstract":"<jats:p>Infantile Cushing\u2019s syndrome is potentially found as part of McCune-Albright syndrome (MAS) which is caused by postzygotic somatic mutations of the &lt;i&gt;GNAS&lt;\/i&gt; gene. MAS is typically characterized by a triad of polyostotic fibrous dysplasia, caf\u00e9-au-lait skin pigmentation, and precocious puberty or other endocrine hyperfunction. Here, we describe a 2-month-old female infant with features of Cushing\u2019s syndrome without caf\u00e9 au lait spots, polyostotic fibrous dysplasia, and clinical evidence of other endocrine hyperfunction. Investigations demonstrated adrenocorticotropic hormone-independent Cushing\u2019s syndrome with bilateral adrenal gland enlargement. Whole-exome sequencing of leukocytes identified a de novo heterozygous novel missense mutation (c.521G&amp;#x3e;A, p.Cys174Tyr) in the &lt;i&gt;GNAS&lt;\/i&gt; gene. The patient experienced clinical improvement of Cushing\u2019s syndrome during ketoconazole treatment. Her clinical course was complicated by &lt;i&gt;Pneumocystis jiroveci&lt;\/i&gt; pneumonia. She also had shortened activated partial thromboplastin time indicating a hypercoagulable state and resulting in pulmonary embolism. She eventually manifested gonadotropin-independent precocious puberty at the age of 13 months after ketoco\u00adnazole was discontinued. This patient demonstrated that Cushing syndrome can be the presenting sign of MAS in infancy. A high index of suspicion followed by genetic analysis is essential in order to establish a diagnosis.<\/jats:p>","DOI":"10.1159\/000501169","type":"journal-article","created":{"date-parts":[[2019,7,30]],"date-time":"2019-07-30T21:00:32Z","timestamp":1564520432000},"page":"196-202","source":"Crossref","is-referenced-by-count":5,"title":["A Novel &lt;b&gt;&lt;i&gt;GNAS&lt;\/i&gt;&lt;\/b&gt; Mutation Causing Isolated Infantile Cushing\u2019s Syndrome"],"prefix":"10.1159","volume":"92","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0815-1511","authenticated-orcid":false,"given":"Prapai","family":"Dejkhamron","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chupong","family":"Ittiwut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hataitip","family":"TangNgam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanokkarn","family":"Sunkonkit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rungrote","family":"Natesirinilkul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanya","family":"Suphapeetiporn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vorasuk","family":"Shotelersuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2019,7,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clp.2017.10.002"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-031225"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2006.19.S2.551"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1159\/000245934"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2016.08.009"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1186\/s13256-015-0689-2"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-S1-S4"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(00)80202-0"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-2321"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2016.01.006"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ando.2018.03.010"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007\/s11914-015-0268-x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1159\/000473878"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.14310\/horm.2002.1578"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e31821ec4ce"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37841"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-1818"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2008.12.003"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1007\/s11102-016-0742-1"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1093\/ofid\/ofx002"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016\/j.prrv.2009.06.010"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12094"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-03-1042"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.1999.12.1.81"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/501169","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/501169","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:45:26Z","timestamp":1745426726000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000501169"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"references-count":24,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2020,2,5]]},"published-print":{"date-parts":[[2020,2,13]]}},"URL":"https:\/\/doi.org\/10.1159\/000501169","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019]]}}}