Noonan syndrome and autoimmune hepatitis: patient report and literature review

Aurora Pescini; Nina Tyutyusheva; Giuseppe Indolfi; Chiara Rubino; Federica Sodini; Diego Peroni; Silvano Bertelloni

doi:10.1515/jpem-2025-0301

Article

Noonan syndrome and autoimmune hepatitis: patient report and literature review

Aurora Pescini , Nina Tyutyusheva , Giuseppe Indolfi , Chiara Rubino , Federica Sodini , Diego Peroni and Silvano Bertelloni

Published/Copyright: September 29, 2025

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 39 Issue 1

Abstract

Objectives

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.

Case presentation

A 17-year-old boy with NS due to PTPN11 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.

Conclusions

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.

Keywords: Noonan syndrome; autoimmune hepatitis; autoimmunity; RASopathies

Corresponding author: Silvano Bertelloni, MD, Pediatric and Adolescent Endocrinology, Department of Clinical and Experimental Medicine, Section of Pediatrics, University of Pisa, Via Roma, 67, Pisa, Italy, E-mail: sbertelloni9@gmail.com

Research ethics: Not applicable.
Informed consent: Informed consent was obtained from all individuals included in this study, or their legal guardians or wards.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Use of Large Language Models, AI and Machine Learning Tools: None declared.
Conflict of interest: The authors state no conflict of interest.
Research funding: None declared.
Data availability: Not applicable.

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Received: 2025-05-29

Accepted: 2025-09-03

Published Online: 2025-09-29

Published in Print: 2026-01-23

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Articles in the same Issue

https://doi.org/10.1515/jpem-2025-0301

Keywords for this article

Noonan syndrome; autoimmune hepatitis; autoimmunity; RASopathies