{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T05:10:36Z","timestamp":1784005836742,"version":"3.55.0"},"reference-count":20,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T00:00:00Z","timestamp":1696982400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>This study aimed to summarize and show the characteristics and evolutionary process of neonatal cholestasis caused by McCune\u2013Albright syndrome (MAS), as neonatal cholestasis may be the initial manifestation of MAS before other classic clinical features appear.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The clinical characteristics, treatment methods, and outcomes of three neonatal cholestasis cases caused by MAS in our center were retrospectively studied. In addition, all the reported cases of MAS combined with cholestasis were reviewed and summarized to show the cholestatic features in them.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We have confirmed three MAS cases in our center, presenting onset symptoms of jaundice, pale stool, and neonatal cholestasis soon after birth. The cholestasis subsided spontaneously at around the sixth month. The literature review showed that the levels of total bilirubin, conjugated bilirubin, ALT, AST, and GGT in neonatal MAS cholestasis cases were 207\u2005\u03bcmol\/L (range 65\u2013445\u2005\u03bcmol\/L), 162\u2005\u03bcmol\/L (range 46\u2013412\u2005\u03bcmol\/L), 821\u2005U\/L (range 85\u20133,597\u2005U\/L), 532\u2005U\/L (range 127\u20133,633\u2005U\/L), and 244\u2005U\/L (range 79\u20133,800\u2005U\/L), respectively. Liver histology showed canalicular and hepatocellular cholestasis, giant hepatic cell transformation, and bile paucity. Extrahepatic manifestations such as caf\u00e9-au-lait pigmented skin lesions, Cushing's syndrome, hyperthyroidism, renal tubular dysfunction, and skeletal abnormalities could occur simultaneously when jaundice occurred. GNAS mutations had a high positive rate (83.3%\u2013100%) in liver tissue with cholestasis. Neonatal cholestasis caused by MAS could be self-resolved, but hepatic lesions persist and have malignant potential.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>MAS can be one of the causes of neonatal cholestasis, which may be the first manifestation of the disease. Extrahepatic coexisting symptoms of MAS and liver histology can help to distinguish MAS from other etiology of cholestasis. Detecting GNAS mutations in liver tissue may shorten diagnostic time and is of particular interest in the partial and atypical forms of MAS with neonatal cholestasis. Neonatal cholestasis in children with MAS can self-resolve, but liver dysfunction and malignant lesions persist.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2023.1275162","type":"journal-article","created":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T06:10:11Z","timestamp":1697004611000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Neonatal cholestasis as the onset symptom of McCune\u2013Albright syndrome: case reports and a literature review"],"prefix":"10.3389","volume":"11","author":[{"given":"Weiyuan","family":"Fang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanhui","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lian","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinbao","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,10,11]]},"reference":[{"key":"B1","first-page":"1","article-title":"Fibrous dysplasia\/McCune\u2013Albright syndrome","volume-title":"Genereviews\u00ae","author":"Boyce","year":"2015"},{"key":"B2","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1016\/j.dld.2021.09.011","article-title":"Diagnostic approach to neonatal and infantile cholestasis: a position paper by the SIGENP liver disease working group","volume":"54","author":"Ranucci","year":"2011","journal-title":"Dig Liver Dis"},{"key":"B3","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1016\/S1043-9471(96)80060-7","article-title":"Molecular methods for analysis of genetic polymorphisms: application to the molecular genetic study of genes encoding \u03b2 2-adrenoceptor and stimulatory g protein \u03b1 subunit","volume":"29","author":"Emala","year":"1996","journal-title":"Methods Neurosci"},{"key":"B4","doi-asserted-by":"publisher","first-page":"2107","DOI":"10.1210\/jc.2003-031225","article-title":"Activating Gs\u03b1 mutations: analysis of 113 patients with signs of McCune\u2013Albright syndrome\u2014a European collaborative study","volume":"89","author":"Lumbroso","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"B5","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1016\/s0022-3476(05)80943-6","article-title":"Severe endocrine and nonendocrine manifestations of the McCune\u2013Albright syndrome associated with activating mutations of stimulatory G protein GS","volume":"123","author":"Shenker","year":"1993","journal-title":"J Pediatr"},{"key":"B6","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1016\/s0168-8278(00)80202-0","article-title":"Demonstration of McCune\u2013Albright mutations in the liver of children with high \u03b3gt progressive cholestasis","volume":"32","author":"Silva","year":"2000","journal-title":"J Hepatol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"e54","DOI":"10.1097\/MPG.0000000000002266","article-title":"Hepatic lesions associated with McCune\u2013Albright syndrome","volume":"68","author":"Johansen","year":"2019","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"B8","doi-asserted-by":"publisher","first-page":"E97","DOI":"10.1210\/jc.2013-1823","article-title":"Hepatobiliary and pancreatic neoplasms in patients with McCune\u2013Albright syndrome","volume":"99","author":"Gaujoux","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"B9","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1515\/jpem.2006.19.s2.551","article-title":"McCune\u2013Albright syndrome: clinical picture and natural history in children and adolescents","volume":"19","author":"Volkl","year":"2006","journal-title":"J Pediatr Endocrinol Metab"},{"key":"B10","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/jbm4.10134","article-title":"Neonatal McCune\u2013Albright syndrome: a unique syndromic profile with an unfavorable outcome","volume":"3","author":"Corsi","year":"2018","journal-title":"JBMR Plus"},{"key":"B11","doi-asserted-by":"publisher","first-page":"890","DOI":"10.1210\/jcem.79.3.8077378","article-title":"Activating mutation in the stimulatory guanine nucleotide-binding protein in an infant with Cushing\u2019s syndrome and nodular adrenal hyperplasia","volume":"79","author":"Boston","year":"1994","journal-title":"J Clin Endocrinol Metab"},{"key":"B12","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1080\/08035250310007880","article-title":"Infant cholestasis in McCune\u2013Albright syndrome","volume":"93","author":"El-Rifai","year":"2004","journal-title":"Acta Paediatr"},{"key":"B13","doi-asserted-by":"publisher","first-page":"31","DOI":"10.34763\/jmotherandchild.20202404.d-20-00012","article-title":"A patient with neonatal cholestasis","volume":"24","author":"Claeys","year":"2021","journal-title":"J Mother Child"},{"key":"B14","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/ccr3.6077","article-title":"A case report of McCune\u2013Albright syndrome with hepatic manifestations","volume":"10","author":"Haddadi","year":"2022","journal-title":"Clin Case Rep"},{"key":"B15","doi-asserted-by":"publisher","first-page":"100","DOI":"10.4274\/jcrpe.galenos.2018.2018.0110","article-title":"Severe neonatal cholestasis as an early presentation of McCune\u2013Albright syndrome","volume":"11","author":"Coles","year":"2018","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"B16","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1186\/s13256-015-0689-2","article-title":"Neonatal McCune\u2013Albright syndrome with systemic involvement: a case report","volume":"9","author":"Louren\u00e7o","year":"2015","journal-title":"J Med Case Rep"},{"key":"B17","doi-asserted-by":"publisher","first-page":"7","DOI":"10.5409\/wjcp.v10.i2.7","article-title":"Neonatal cholestasis can be the first symptom of McCune\u2013Albright syndrome: a case report","volume":"10","author":"Satomura","year":"2021","journal-title":"World J Clin Pediatr"},{"key":"B18","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1016\/j.jpeds.2016.08.009","article-title":"Neonatal McCune\u2013Albright syndrome with giant cell hepatitis","volume":"178","author":"Ikawa","year":"2016","journal-title":"J Pediatr"},{"key":"B19","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1055\/s-0041-1730951","article-title":"Alagille syndrome: a focused review on clinical features, genetics, and treatment","volume":"41","author":"Kohut","year":"2021","journal-title":"Semin Liver Dis"},{"key":"B20","doi-asserted-by":"publisher","first-page":"1508","DOI":"10.1210\/jc.2009-2321","article-title":"Cushing syndrome in the McCune\u2013Albright syndrome","volume":"95","author":"Brown","year":"2010","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2023.1275162\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T06:10:14Z","timestamp":1697004614000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2023.1275162\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,11]]},"references-count":20,"alternative-id":["10.3389\/fped.2023.1275162"],"URL":"https:\/\/doi.org\/10.3389\/fped.2023.1275162","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,11]]},"article-number":"1275162"}}