Severe forms of complete androgen insensitivity syndrome caused by a p.Q65X novel mutation in androgen receptor: clinical manifestations, imaging findings and molecular genetics.

•Patient with typical characteristics of complete androgen insensitivity syndrome.•Diagnosis established by clinical information and molecular genetic technology.•AR gene mutation generates a premature termination codon at amino acid position 66.•The mutation occurs in the N-terminal functional domain.•The mutant receptor lacks both transactivation and transrepression activity.