Published: 2017-02-10

Androgen insensitivity syndrome: discussion based on three cases

Gaurav Sharma, Rita Ghode


Androgen insensitivity syndrome is an X-linked recessive condition due to a complete or partial insensitivity to androgen, resulting in a failure of normal masculinisation of the external genitalia in chromosomally male individuals. This failure of virilisation can be either complete or partial depending on the amount of residual androgen receptor function. It is classified into three categories depending upon the degree of genital masculinisation into complete, partial and mild insensitivity with phenotype variation from normal female at one end to normal male on other end.

Here we described two cases of partial and one case of complete androgen insensitivity syndrome. The presenting feature in partial androgen insensitivity patients was amenorrhea in 16 year female and ambiguous genitalia in 7 months baby. The complete androgen insensitivity case presented with inguinal hernia only at 6 years of age. All the three cases were classified according to Quigley scale with Karyotyping confirming 46 XY genotype. After full evaluation two patients had undergone gonadectomy while in third case parents opted to take definitive decision in future. The role of psychological support and counselling is also emphasized with timing of disease disclosure to patient left over to the parents for appropriate age.


Ambiguous genitalia, Inguinal hernia, Testicular feminisation syndrome

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