hrp0084p3-793 | DSD | ESPE2015

A Novel Mutation of the AR Gene Causes Androgen Insensitivity Syndrome: A Case Report

longjiang Zhang , xionghui Xian , shufeng Tian , xia Liu , zhe Su

Background: A 8-year-old Chinese girl was referred by the endocrinologist of our hospital because of ambiguous external genitalia.Physical examination revealed breast and axillary hair and pubic hair at Tanner stage 1, There had two mass located within two side of inguinal regions,labia fusion, the size of clitoris was 2.0×1.0 cm, there was a vaginal opening. US images revealed a solid nodile suggestive of testicular tissue located in both inguinal regions. The MRI exam c...