Number of the records: 1  

syndróm androgénnej insenzitivity

  1. Record numberd013734
    Date06.06.2025
    TypeM - MESH
    Topical termsyndróm androgénnej insenzitivity
    Other termEnglish (Pseudonym) Testicular Feminization
    Slovak (Pseudonym) syndróm necitlivosti na androgény
    Slovak (Pseudonym) feminizácia testikulárna
    UDCC12.050.351.875.253.096.500C12.200.706.316.096.500C12.800.316.096.500C16.131.939.316.096.500C16.320.322.061C19.391.119.096.500
    NoteA 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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Number of the records: 1  

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