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syndróm androgénnej insenzitivity

  1. Subject h.syndróm androgénnej insenzitivity
    Subject h.Androgen-Insensitivity Syndrome
    Entry termssyndróm necitlivosti na androgény
    feminizácia testikulárna
    English X referencesTesticular Feminization
    Scope note in EnglishA disorder of sexual development 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 (RECEPTORS, ANDROGEN) 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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