A tall girl comes to OPD with history of primary amenorrhea. On examination, there is normal development of breast, axillary and public hair is absent and there is presence of inguinal hernia. what is the probable diagnosis?

Correct Answer: Androgen insensitivity syndrome
Description: Testicular feminising syndrome / Androgen insensitivity syndrome : Mutation in androgen receptor causes resistance to androgen action Genotype is that of male,while phenotype is of female. Vagina ends blindly in a pouch. During puberty there is normal development of breasts, public and axillary hair absent and primary amenorrhea. Undescended testis leads to bilateral inguinal hernia.
Category: Pediatrics
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