Clinical and genetic analysis of androgen insensitivity syndrome

Wu Ting; Zhu Min

您当前的位置：

首页 >

文章列表页 >

Clinical and genetic analysis of androgen insensitivity syndrome

更新时间：2022-06-10

- Clinical and genetic analysis of androgen insensitivity syndrome
- Journal of Chongqing Medical University Vol. 47, Issue 3, Pages: 268-272(2022)
- 作者机构：
  
  重庆医科大学附属儿童医院内分泌科、儿童发育疾病研究教育部重点实验室、国家儿童健康与疾病临床医学研究中心、儿童发育重大疾病国家国际科技合作基地、儿科学重庆市重点实验室,重庆,400014
- 作者简介：
- 基金信息：
- DOI：
  CLC：
- Published：2022，
扫描看全文
Wu Ting, Zhu Min. Clinical and genetic analysis of androgen insensitivity syndrome. [J]. Journal of Chongqing Medical University 47(3):268-272(2022)
DOI：

Wu Ting, Zhu Min. Clinical and genetic analysis of androgen insensitivity syndrome. [J]. Journal of Chongqing Medical University 47(3):268-272(2022) DOI：

摘要

目的：分析雄激素不敏感综合征（androgen insensitivity syndrome，AIS）的临床特征与遗传学特点。方法：收集2015年至2020年重庆医科大学附属儿童医院就诊的10例AIS患者临床资料，提取患儿及父母外周血DNA，对患儿DNA样本进行内分泌疾病相关基因高通量测序，并进行家系DNA样本Sanger测序验证。结果：10例患者均检测到雄激素受体（androgen receptor，AR）基因变异，其中5个变异以前未报道过，分别是c.401dupA（p.P135Afs23）、1 350 bp缺失突变、c.2505C>G（p.Y835X）、c.1747T>C（p.F583L）和c.610G>T（p.E204X），其中c.610G>T（p.E204X）为嵌合体突变。结论：本研究中5例未报道变异均可能致病，提示基因检测有助于AIS的确诊，有利于AIS患者的临床决策和遗传咨询。

Abstract

Objective：To analyze the clinical and genetic characteristics of androgen insensitivity syndrome（AIS）. Methods：Clinical data of 10 AIS patients who were treated in the Children's Hospital of Chongqing Medical University from 2015 to 2020 were collected in the study. The DNA was extracted from the peripheral blood of the children and their parents. The endocrine disease-related genes were sequenced，and family DNA samples were verified by Sanger sequencing. Results：Androgen receptor（AR） gene mutations were identified in all patients，of which five mutations had not been described previously，namely c.401dupA（p.P135Afs23），1 350 bp deletion mutation，c.2505C>G（p.Y835X），c.1747T>C（p.F583L） and c.610G>T（p.E204X）. Among them，c.610G>T（p.E204X） was a chimera mutation. Conclusion：All five undescribed mutations in this study may be pathogenic，suggesting that gene testing is helpful to the diagnosis of AIS，and is beneficial to clinical decision-making and genetic counseling of AIS patients.

关键词

雄激素不敏感综合征雄激素受体基因变异儿童

Keywords

androgen insensitivity syndromeandrogen receptorgene mutationchild

references

Views

下载量

CSCD

Alert me when the article has been cited

提交

Tools

Publicity Resources

A mixed methods study of quality of life in children with osteogenesis imperfecta

Clinical analysis of 158 children with ovarian cysts

Expression of AR and CARM1 as well as its product in rat PCOS model

Optimum dose of dexmedetomidine for prevention of emergence agitation after sevoflurane anesthesia in children undergoing ambulatory surgery

THE CLINICAL AND PATHALAGICAL CHARACTER-ISTICS IN MECKEL’S UIVERTICULUM CHILDREN

Related Author

Du Fanyan

Mo Lin

Xiao Ling

Gong Chunzhu

Cheng Xinran

Yan Li

Gou Peng

Ge Liyuan

Related Institution

Outpatient Department of Children's Hospital of Chongqing Medical University，Key Laboratory of Ministry of Education of Developmental Diseases in Children，National Clinical Research Center for Child Health and Disorders， Chongqing Key Laboratory of Pediatrics

Department of Orthopedics，Children's Hospital of Chongqing Medical University

Department of Pediatric Endocrinology，Genetics，and Metabolism，The Affiliated Women’s and Children’s Hospital，School of Medicine，University of Electronic Science and Technology of China · Chengdu Women’s and Children’s Central Hospital

Department of Obsterics and Gynecology,The First Affiliated Hospital of Chongqing Medical University

Department of Anesthesiology,The Stomatologic Hospital of Chongqing Medical University,Chongqing Key Laboratory of Oral Diseases and Biomedical Sciences,Chongqing Municipal Key Laboratory of Oral Biomedical Engineering of Higher Education

⁰