Clinical diagnosis and molecular genetic analysis of complete androgen insensitivity syndrome
10.3969/j.issn.1009-8291.2025.06.006
- VernacularTitle:1例完全性雄激素不敏感综合征患者的临床诊治及分子遗传学分析
- Author:
Junbo BAI
1
;
Dilimulati DIYAER
1
;
Jia LI
1
Author Information
1. Department of Pediatric Urology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, China
- Publication Type:Journal Article
- Keywords:
complete androgen insensitivity syndrome;
androgen receptor;
gene mutation;
disorders of sex development
- From:
Journal of Modern Urology
2025;30(6):489-492
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To explore the clinical and molecular genetic characteristics of complete androgen insensitivity syndrome (CAIS) caused by androgen receptor (AR) gene mutations. Methods: The clinical phenotype and postoperative gonadal pathological characteristics of a female XY patient with a chromosomal karyotype of 46 were analyzed, and full IDT testing was performed. Results: The patient had female appearance with underdeveloped vagina, but no normal uterine tissue was found on imaging examination. The pathological findings of gonadal tissue showed testicular tissue, including some spermatic cords. The AR gene was located on chromosome chrX: 66931243 exhibiting splicing site variation, and the variation site was c.1886-1G＞A (-). Conclusion: The clinical manifestations of androgen insensitivity syndrome are diverse, and AR deficiency is one of the important causes. This case study summarizes the clinical diagnosis and treatment principles of CAIS and analyzes the molecular genetic.
