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DeCS
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Descriptor English:
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Androgen-Insensitivity Syndrome
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Descriptor Spanish:
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Síndrome Andrógeno-Insensibilidad
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Descriptor Portuguese:
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Síndrome de Resistência a Andrógenos
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Synonyms English:
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Testicular Feminization
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Tree Number:
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C12.706.842.316.627.109
C13.351.875.842.316.627.109
C16.131.939.842.316.627.109
C16.320.322.061
C19.391.775.316.627.500
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Definition English:
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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 (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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Indexing Annotation English:
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check the tag MALE
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History Note English:
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2002(1968)
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Allowable Qualifiers English:
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Record Number:
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14113
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Unique Identifier:
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D013734
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Occurrence in VHL:
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Similar:
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DeCS SciELO LILACS LIS
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