摘要
回顾性分析2021年6月在江西省儿童医院内分泌遗传代谢科就诊的1例46, XY性发育异常(46, XY DSD)并Asp-Glu-Ala-His-box解螺旋酶37(DHX37)基因突变家系的临床资料、实验室检查、基因检测结果及诊治过程。DHX37基因突变为2019年国际上新确认的导致46, XY DSD的致病基因, 为常染色体显性遗传, 有不全外显现象, 临床表现有外生殖器异常、睾丸退化不全综合征、性腺发育不良。本例为中国人群首例DHX37基因c.2020C>T(p.R674W)杂合变异致46, XY DSD报道, 为46, XY DSD患儿诊疗提供新思路及家庭再次生育提供可靠的遗传学证据。
A clinical data,laboratory examination,genetic test results,diagnose and treatment of a patient with 46,XY disorders of sexual development(46,XY DSD)from a family of the Asp-Glu-Ala-His-box helicase 37(DHX37)gene mutation were retrospectively analyzed.The child was admitted in the Department of Genetics,Endocrinology and Metabolism,Jiangxi Children′s Hospital in June 2021.The DHX37 gene mutation was confirmed as a new pathogenic gene leading to 46,XY DSD in 2019.It is featured as autosomal dominant inheritance with incomplete externality.Its clinical manifestations are abnormal external genitalia,testicular degeneration insufficiency syndrome and gonadal insufficiency.This patient is the first 46,XY DSD case caused by the heterozygous variation of DHX37 gene c.2020C>T(p.R674W)in China.This study can provide new ideas for diagnosis and treatment of 46,XY DSD children and reliable genetic evidence for family reproduction.
作者
杨玉
黄慧
吴铁牛
杨利
谢理玲
帅霞
陈卡
熊翔宇
Yang Yu;Huang Hui;Wu Tieniu;Yang Li;Xie Liling;Shuai Xia;Chen Ka;Xiong Xiangyu(Department of Endocrinology,Metabolism and Genetics,the Affiliated Children′s Hospital of Nanchang University(Jiangxi Provincial Children′s Hospital),Jiangxi Provincial Children′s Genetic and Metabolic Disease Clinical Medicine Research Center,Nanchang 330006,China;Jiangxi Provincial Key Laboratory of Child Development and Genetics,the Affiliated Children′s Hospital of Nanchang University(Jiangxi Provincial Children′s Hospital),Nanchang 330006,China;Department of Pediatrics,Ganzhou Maternal and Child Health Hospital,Ganzhou 341000,China)
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2022年第18期1413-1415,共3页
Chinese Journal of Applied Clinical Pediatrics
基金
江西省科技厅省科技创新基地计划(20192BCD42004)。