Complete androgen insensitivity syndrome in identical twins
- VernacularTitle:同卵双生完全型雄激素不敏感综合征两例
- Author:
Wenxia LI
1
;
Huibiao QUAN
;
Jingtao DOU
;
Kaining CHEN
;
Shanshan LI
;
Chaoqin CHEN
;
Daoliang OU
;
Zhen LI
;
Mei ZHANG
;
Taomei XIE
Author Information
- From: Chinese Journal of Endocrinology and Metabolism 2020;36(8):707-710
- CountryChina
- Language:Chinese
- Abstract: Androgen insensitivity syndrome (AIS) is a recessive single gene disease of X chromosome, which is rare clinically and has a very low incidence in newborn boys. This is mainly due to the abnormal pathway in which androgens play a role, resulting in sexual differentiation disorder in patients. A pair of identical twins were admitted to our hospital, and a new pathogenic mutation site of the androgen receptor gene was found, resulting in an androgen insensitivity phenotype.
