Complete androgen insensitivity syndrome with gender transition in adulthood: A case report
10.3760/cma.j.cn311282-20230608-00258
- VernacularTitle:成年后诊断完全性雄激素不敏感综合征并完成社会性别转换一例
- Author:
Meicen PU
1
;
Dan WANG
;
Meinan HE
;
Xinzhao FAN
;
Mengchen ZOU
;
Yijuan HUANG
;
Jiming LI
;
Shanchao ZHAO
;
Yunjun LIAO
;
Yaoming XUE
;
Ying CAO
Author Information
1. 南方医科大学南方医院内分泌代谢科，广州 510515
- Keywords:
Complete androgen insensitivity syndrome;
Gender dysphoria;
Disorder of sex development
- From:
Chinese Journal of Endocrinology and Metabolism
2024;40(7):602-607
- CountryChina
- Language:Chinese
-
Abstract:
Complete androgen insensitivity syndrome(CAIS) is characterized by lack of androgen response in target organs due to androgen receptor dysfunction, resulting in feminized external genitalia. Individuals with CAIS are typically advised to live as females. This article reports a patient diagnosed with CAIS and gender dysphoria in adulthood. Following the removal of a left pelvic mass, pathology indicated cryptorchidism with a concurrent Leydig cell tumor. Genetic testing revealed a deletion mutation in exon 3 of androgen receptor gene. During follow-up, the patient underwent gender reassignment, transitioning socially from female to male. This case provides new insights into gender allocation for CAIS patients.
