Abstract

Androgen insensitivity syndrome (AIS), is a X-linked disorder characterized by resistance to androgen caused by mutation of androgen receptor gene in which XY karyotype individuals exhibit female phenotype. AIS is characterised by evidence of feminization (under masculinization) of the external genitalia at birth, abnormal secondary sexual development at puberty, and infertility in individuals with 46 XY karyotype. We are presenting here a familial case of complete androgen insensitivity syndrome in south Indian Population. 46 XY karyotype was found in two subjects who were cousin sisters with female phenotype,who presented with primary amenorrhoea. Comet assay was done, which showed results comparable with normal males. In both girls’ inguinal gonads was present which was removed and hormonal therapy with estrogen was given to prevent osteoporosis. Androgen insensitivity syndrome can be inherited as an X linked disorder as evidenced by previous studies.

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