Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy

• Main Authors: You Jung Heo (Author), Jung Min Ko (Author), Young Ah Lee (Author), Choong Ho Shin (Author), Sei Won Yang (Author), Man Jin Kim (Author), Sung Sub Park (Author)
• Format: Book
• Published: Korean Society of Pediatric Endocrinology, 2018-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical role in male sexual differentiation and development and preservation of the male phenotype. Mutations i...