Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 6, 2022; 10(31): 11486-11492
Published online Nov 6, 2022. doi: 10.12998/wjcc.v10.i31.11486
Novel compound heterozygous variants in the LHX3 gene caused combined pituitary hormone deficiency: A case report
Shuang-Zhu Lin, Qi-Ji Ma, Qi-Ming Pang, Qian-Dui Chen, Wan-Qi Wang, Jia-Yi Li, Su-Li Zhang
Shuang-Zhu Lin, Diagnosis and Treatment Center for Children, The First Affiliated Hospital to Changchun University of Chinese Medicine, Changchun 130021, Jilin Province, China
Qi-Ji Ma, The First Affiliated Hospital to Changchun University of Chinese Medicine, Changchun 130021, Jilin Province, China
Qi-Ming Pang, Su-Li Zhang, Department of Neonatology, Hainan Women and Children's Medical Center, Haikou 570100, Hainan Province, China
Qian-Dui Chen, Wan-Qi Wang, Jia-Yi Li, Changchun University of Chinese Medicine, Changchun 130000, Jilin Province, China
Author contributions: Lin S and Ma Q collected and analyzed all clinical data and wrote the manuscript; Pang Q and Chen Q participated in the collation of the literature and the chart research; Wang W was involved in the genetic diagnosis and treatment of the patients; Lin S, Wang W, Li J and Zhang S substantially participated in drafting and revising the important intellectual content of the manuscript; all authors involved have read and approved the final manuscript.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: All the authors indicated no conflicts of interest.
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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Su-Li Zhang, MD, Doctor, Department of Neonatology, Hainan Women and Children's Medical Center, No. 15 Longkun Nan Road, Haikou, Haikou 570100, Hainan Province, China. 18389454649@163.com
Received: April 15, 2022
Peer-review started: April 15, 2022
First decision: July 14, 2022
Revised: September 14, 2022
Accepted: September 29, 2022
Article in press: September 29, 2022
Published online: November 6, 2022
Processing time: 194 Days and 19.2 Hours
Core Tip

Core Tip: We report an 11-yar-old boy with combined pituitary hormone deficiency (CPHD). DNA sequencing showed that there were two compound heterozygous variants in the LHX3 gene. This study extends the mutation spectrum of the LHX3 gene, and provides a molecular basis for the etiological diagnosis of CPHD and genetic consultation for the family.