The Clinical And Genetic Analysis Of 10 Cases Of Androgen Insensitivity Syndrome

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.Androgen receptor(AR)gene was sequenced for mutation,and bioinformatics software,such as Poly Phen-2,SIFT and Mutation Taster,were applied to predict the impact of mutation on AR function.Results: A total of ten AR gene mutations were identified in all patients,of which five mutations had not been reported previously,namely c.401 dup A(p.P135Afs23),1350 bp deletion mutation,c.2505C>G(p.Y835X),c.1747 T >C(p.F583L)and c.610G>T(p.E204X).Among them,c.610G>T(p.E204X)is a chimera mutation.Conclusions: All the ten mutations in this study may be pathogenic,suggesting that AR gene testing is helpful to the diagnosis of AIS,and is beneficial to clinical decision-making and genetic counseling of AIS patients.