Clinical and genetic analysis of androgen insensitivity syndrome

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.