Noonan syndrome and autoimmune hepatitis: patient report and literature review

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.

Authors

Giuseppe Indolfi (ORCID: https://orcid.org/0000-0003-3830-9823)
Nina Tyutyusheva
Chiara Rubino (ORCID: https://orcid.org/0000-0001-7480-3613)
F Sodini
A Pescini
Silvano Bertelloni (ORCID: https://orcid.org/0000-0003-1264-3284)
Diego Giampietro Peroni (ORCID: https://orcid.org/0000-0002-0234-1373)

Institutions

University of Pisa (IT)
Meyer Children's Hospital (IT)
Ospedale Versilia (IT)

Publication Details

Journal: Journal of Pediatric Endocrinology and Metabolism
Published: 2025-09-28
DOI: https://doi.org/10.1515/jpem-2025-0301
Primary Topic: Protein Tyrosine Phosphatases
Type: article
Field-Weighted Citation Impact: 0.00

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article

Noonan syndrome and autoimmune hepatitis: patient report and literature review

Giuseppe Indolfi, Nina Tyutyusheva, Chiara Rubino, F Sodini et al.

Sep 28, 2025

Journal of Pediatric Endocrinology and Metabolism

Protein Tyrosine Phosphatases

article

Noonan syndrome and autoimmune hepatitis: patient report and literature review

Giuseppe Indolfi, Nina Tyutyusheva, Chiara Rubino, F Sodini, A Pescini, Silvano Bertelloni, Diego Giampietro Peroni

September 28, 2025article en

Abstract

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.

Journal of Pediatric Endocrinology and MetabolismVol. 39(1)

University of Pisa (IT), Meyer Children's Hospital (IT), Ospedale Versilia (IT)

Openalex Percentile: Top 77%

Protein Tyrosine Phosphatases

DOI Source OpenAlex

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