Lin SZ, Ma QJ, Pang QM, Chen QD, Wang WQ, Li JY, Zhang SL. Novel compound heterozygous variants in the LHX3 gene caused combined pituitary hormone deficiency: A case report. World J Clin Cases 2022; 10(31): 11486-11492 [PMID: 36387827 DOI: 10.12998/wjcc.v10.i31.11486]
Corresponding Author of This Article
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
Research Domain of This Article
Pediatrics
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
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
Abstract
BACKGROUND
Combined pituitary hormone deficiency 3 (CPHD3; OMIM: 221750) is caused by mutations within the LHX3 gene (OMIM: 600577), which located on the subtelomeric region of chromosome 9 at band 9q34.3, has seven coding exons and six introns. LIM homeobox (LHX) 3 protein is the key regulator of pituitary development in fetal life.
CASE SUMMARY
We have diagnosed and treate an 11-year-old boy with combined pituitary hormone deficiency (CPHD). The main clinical manifestations were pituitary hormone deficiency, hydrocele of the tunica vaginalis, pituitary dwarfism, gonadal dysplasia, micropenis, clonic convulsion, and mild facial dysmorphic features. We collected peripheral blood from the patient, the patient's older brother, as well as their parents, and sequenced them by using high-throughput whole-exosome sequencing, which was verified by Sanger sequencing. The results showed that there were two compound heterozygous variants of c.613G>C (p.V205L) and c.220T>C (p.C74R) in the LHX3 gene. c.613G>C (p.V205L) was inherited from his mother and c.220T>C (p.C74R) from his father. His brother also has both variants and symptoms.
CONCLUSION
This study reported ununreported genetic mutations of LHX3, and recorded the treatment process of the patients, providing data for the diagnosis and treatment of CPHD.
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.
