Novel compound heterozygous variants in the LHX3 gene caused combined pituitary hormone deficiency: A case report

doi:10.12998/wjcc.v10.i31.11486

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World Journal of Clinical Cases

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Case Report

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).

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

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.

Keywords: Combined pituitary hormone deficiency; LHX3; Children; Gonadal dysplasia; Case report

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.