Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation

Key Points

• This report aims to characterize a novel AR mutation in a phenotypic female with Complete Androgen Insensitivity Syndrome.
• Identified a novel AR frameshift mutation (c.2023_2035del) in a 17-year-old female.
• Emphasized the need for multidisciplinary management in addressing surgical timing and psychological well-being.
• A novel AR mutation was discovered in one patient.
• The necessity for a comprehensive approach in managing CAIS patients was underscored.