Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Feb 26, 2021; 9(6): 1475-1482
Published online Feb 26, 2021. doi: 10.12998/wjcc.v9.i6.1475
Congenital hepatic fibrosis in a young boy with congenital hypothyroidism: A case report
Fang-Fei Xiao, Yi-Zhong Wang, Fang Dong, Xiao-Lu Li, Ting Zhang
Fang-Fei Xiao, Yi-Zhong Wang, Fang Dong, Xiao-Lu Li, Ting Zhang, Department of Gastroenterology, Hepatology and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200062, China
Author contributions: Xiao FF and Zhang T designed the study; Xiao FF and Wang YZ drafted the manuscript; Dong F and Li XL collected data and pictures; Wang YZ and Zhang T edited the manuscript; all authors agreed to be accountable for all aspects of the work; all authors have read and approved the final manuscript.
Supported by National Natural Science Foundation of China, No. 81870373; Shanghai Hospital Development Center New Frontier Technology Joint Research Project, No. SHDC12017115; and 2019 Shanghai “Innovative Action Plan of Science and Technology” Animal Research Project Guide, No. 19140904301.
Informed consent statement: Written informed consents were obtained from the parents of the patient for the publication of this study.
Conflict-of-interest statement: The authors declare that they have no competing interests.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Corresponding author: Ting Zhang, MD, PhD, Professor, Department of Gastroenterology, Hepatology and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University, No. 355 Luding Road, Shanghai 200062, China.
Received: November 4, 2020
Peer-review started: November 4, 2020
First decision: November 20, 2020
Revised: November 27, 2020
Accepted: December 16, 2020
Article in press: December 16, 2020
Published online: February 26, 2021

Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disorder characterized by variable degrees of periportal fibrosis and malformation of bile ducts. CHF is generally accompanied by a variety of conditions or syndromes with other organ involvement.


We report a 5-year-4-month-old Chinese boy with congenital hypothyroidism (CH) diagnosed with CHF. The patient was diagnosed with CH by a newborn screening test and has since been taking levothyroxine. He has developed normally without neurocognitive deficits. Abnormal liver function was observed in the patient at the age of 4 years and 11 mo, and elevated levels of liver function indices were persistent for 5 mo. Radiological imaging indicated hepatospleno-megaly without narrowing of the portal vein but dilated splenic vein. A liver biopsy confirmed the pathological features of CHF. Genetic testing revealed two novel homozygous mutations, namely, c.2141-3T>C variant in PKHD1 related to CHF and c.2921G>A (p.R974H) in DUOX2 related to CH. The patient was treated with compound glycyrrhizin tablet, ursodeoxycholic acid, and levothyroxine after diagnosis. The patient achieved a favorable clinical outcome during a follow-up period of over 2 years.


Herein, we report the first case of a Chinese boy with comorbidity of CHF and CH, carrying both PKHD1 gene and DUOX2 gene novel mutations. Liver biopsy and genetic testing should be considered for the diagnosis of coexistent liver disease in CH patients with unexplained abnormal liver function.

Keywords: Congenital hepatic fibrosis, Congenital hypothyroidism, Liver biopsy, PKHD1, DUOX2, Case report, Genetic testing

Core Tip: Congenital hepatic fibrosis (CHF) is often accompanied by a variety of diseases, but this case introduces a rare comorbidity of CHF and congenital hypothyroidism (CH). Moreover, this report includes a detailed process of its diagnosis and treatment, which highlights that timely liver biopsy and genetic testing can be valuable tools for the diagnosis and differential diagnosis of CH coexistent with unexplained abnormal liver function.