[Replacement of androgen receptor gene causes complete androgen insensitivity in a large family].

OBJECTIVE

To confirm the clinical diagnosis of complete androgen insensitivity syndrome (CAIS) by molecular genetic testing in a large family.

METHODS

PCR was performed to amplify the coding region of androgen gene, followed by direct sequencing in the patients with CAIS and relatives in this family.

RESULTS

A missense mutation Arg773His was identified in the patients (homozygous) and carriers (heterozygous).

CONCLUSIONS

Mutation Arg773His in the AR gene leads to CAIS in this family. Molecular genetic testing of CAIS facilitates not only prenatal genetic diagnosis but also preimplantation genetic diagnosis and offers genetic counseling for future pregnancies to abandon the transmission of the mutated X chromosome to the coming generation.