Women with CAIS may be relatively tall. In adult patients, serum testosterone levels are in the Because of the fact that the androgen receptor is on the X chromosome, CAIS is an X-linked disorder. In most cases, a mutation in the coding region of the gene for the AR can be demonstrated, and extensive structure-function studies have been carried out. Similar to all steroid receptors, the AR is a ligand-dependent transcription factor. Mutations in the gene encoding AR may consist of complete absence, large deletions, or point mutations introducing premature stop codons that cause complete disruption of the protein sequence.
Patients can be normal males or somewhat eunuchoid with gynecomastia.
Mullerian structures are absent.