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

作　　者：Shuang-Zhu Lin Qi-Ji Ma Qi-Ming Pang Qian-Dui Chen Wan-Qi Wang Jia-Yi Li Su-Li Zhang 

机构地区：[1]Diagnosis and Treatment Center for Children,The First Affiliated Hospital to Changchun University of Chinese Medicine,Changchun 130021,Jilin Province,China [2]The First Affiliated Hospital to Changchun University of Chinese Medicine,Changchun 130021,Jilin Province,China [3]Department of Neonatology,Hainan Women and Children's Medical Center,Haikou 570100,Hainan Province,China [4]Changchun University of Chinese Medicine,Changchun 130000,Jilin Province,China

出　　处：《World Journal of Clinical Cases》2022年第31期11486-11492,共7页世界临床病例杂志

摘　　要：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.

关 键 词：Combined pituitary hormone deficiency LHX3 Children Gonadal dysplasia Case report 

分 类 号：R725.8[医药卫生—儿科]