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androgen-insensitivity syndrome A familial form of pseudohermaphroditism transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with infertility.


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Additional comments :
(Testicular Feminization, Complete Androgen-Insensitivity Syndrome, Partial Androgen-Insensitivity Syndrome, Reifenstein's Syndrome)



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