摘要
目的 分析雄激素不敏感综合征(androgen insensitivity syndrome, AIS)患者的临床资料和遗传学结果。方法 收集2017—2022年在江西省儿童医院就诊的9例AIS患者临床资料,完善相关实验室检查及性腺、腹股沟彩超,并进行基因突变检测。结果 9例患者染色体均为男性核型,其中7例患者的社会性别为女性,2例为男性;所有患者就诊原因均有腹股沟斜疝(或伴有性别模糊),均发现AR基因突变,病例1为新突变(p.R608fs*18)。66.6%(6/9)的AIS患者突变位于配体结合域(ligand binding domain, LDB),80%(4/5)的完全型雄激素不敏感综合征患者突变位于LBD,50.0%(2/4)的部分型雄激素不敏感综合征患者突变位于LBD。55.5%(5/9)AIS患者突变类型为错义突变。结论 错义突变为AR基因常见突变类型,LBD是AIS的主要突变部位,外生殖器表现为女性患者,如发现腹股沟斜疝,应常规行性腺及腹股沟彩超检查以排外AIS。
Objective To analyze clinical data and genetic results in patients with androgen insensitivity syndrome(AIS).Methods Clinical data of 9 AIS patients who attended Jiangxi Children's Hospital from 2017 to 2022 were collected;relevant laboratory tests and gonadal and inguinal ultrasound were improved;gene mutation testing was performed.Results The chromosomes of all 9 patients were of male karyotype,the social sex of 7 patients being female and 2 male;all patients had oblique inguinal hernia(or with gender ambiguity)as the reason for their visit;all of them were found to have mutations in the AR gene,with 1 case being a new mutation(p.R608fs*18).66.6%(6/9)of AIS patients had mutations in ligand binding domains;80%(4/5)of complete androgen insensitivity syndrome patients had mutations in LBD;50%(2/4)of partial androgen insensitivity syndrome patients had mutations in LBD;missense mutations were found in 55.5%(5/9)of AIS patients.Conclusion Missense mutations could be the common mutation type of AR gene;LBD could be the main mutation site of AIS,and external genitalia might manifest in female patients.If oblique inguinal hernia is found,gonad and inguinal color ultrasound could be routinely considered to exclude AIS.
作者
徐磊
杨玉
杨利
谢理玲
张东光
黄慧
熊翔宇
XU Lei;YANG Yu;YANG Li;XIE Li-Ling;ZHANG Dong-guang;HUANG Hui;XIONG Xiang-yu(Department of Endocrinology,Genetics and Metabolism,Jiangxi Provincial Children's Hospital,Nanchang 330006,China;Jiangxi Provincial Clinical Medical Research Center for Children's Genetic metabolic Diseases,Jiangxi Provincial Children's Hospital,Nanchang 330006,China;Jiangxi Provincial Key Laboratory of Child Development and Genetics,Jiangxi Provincial Children's Hospital,Nanchang 330006,China)
出处
《南昌大学学报（医学版）》
2024年第3期59-65,共7页
Journal of Nanchang University：Medical Sciences
基金
江西省自然科学基金资助项目(20202BABL206039)。
