Androgen insensitivity syndrome causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Causes

• Androgen insensitivity syndrome is caused due to mutations in the X-linked androgen receptor gene, which encodes for the ligand-activated androgen receptor—a transcription factor.
• More than 800 mutations in the AR gene have been reported in AIS patients.
• AIS phenotype majorly depends on the degree of residual androgen receptor (AR) activity
• Most severe mutations are generally associated with a CAIS phenotype.