{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T12:10:35Z","timestamp":1767874235951,"version":"3.49.0"},"reference-count":34,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0301_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Noonan syndrome (NS) is a genetic disease characterized by dysregulation in the RAS\/MAPK pathway. Affected individuals present peculiar physical features, short stature, and congenital cardiovascular defects. Autoimmune hepatitis is a chronic immunoinflammatory liver disease.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0301_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A 17-year-old boy with NS due to\n                      <jats:italic>PTPN11<\/jats:italic>\n                      gene variation and type 1 autoimmune hepatitis (AIH-1; biopsy proven) is described. A literature search on the association between NS and AIH1 showed additional two cases.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0301_abs_004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This report highlights the importance of monitoring patients with NS for signs of autoimmune diseases, mainly liver dysfunction. Precise mechanisms linking NS and AIH-1 remain unclear. Anyway, the dysregulation of the RAS\/MAPK pathway may be involved. Periodic monitoring of transaminases and prompt evaluation with liver biopsy should be done to optimize diagnosis and treatment of people with NS.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0301","type":"journal-article","created":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T06:09:02Z","timestamp":1759039742000},"page":"81-85","source":"Crossref","is-referenced-by-count":0,"title":["Noonan syndrome and autoimmune hepatitis: patient report and literature review"],"prefix":"10.1515","volume":"39","author":[{"given":"Aurora","family":"Pescini","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology, Department of Clinical and Experimental Medicine, Section of Pediatrics , 9310 University of Pisa , Pisa , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nina","family":"Tyutyusheva","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, Department of Clinical and Experimental Medicine, Section of Pediatrics , 9310 University of Pisa , Pisa , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Indolfi","sequence":"additional","affiliation":[{"name":"Liver Disesase Unit , Azienda Ospedaliero Universitaria Meyer , Firenze , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Rubino","sequence":"additional","affiliation":[{"name":"Liver Disesase Unit , Azienda Ospedaliero Universitaria Meyer , Firenze , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federica","family":"Sodini","sequence":"additional","affiliation":[{"name":"Pediatric Unit , Ospedale Versilia, ASL Toscana Nord-Ovest , Camaiore, Lucca , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diego","family":"Peroni","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, Department of Clinical and Experimental Medicine, Section of Pediatrics , 9310 University of Pisa , Pisa , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvano","family":"Bertelloni","sequence":"additional","affiliation":[{"name":"Pediatric and Adolescent Endocrinology, Department of Clinical and Experimental Medicine, Section of Pediatrics , 9310 University of Pisa , Pisa , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,9,29]]},"reference":[{"key":"2026010809595745359_j_jpem-2025-0301_ref_001","doi-asserted-by":"crossref","unstructured":"Zenker, M, Edouard, T, Blair, JC, Cappa, M. 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