Käsitteen tiedot
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
...
Congenital Abnormalities
Urogenital Abnormalities
Disorders of Sex Development
Disorder of Sex Development, 46,XY
...
Female Urogenital Diseases
Urogenital Abnormalities
Disorders of Sex Development
Disorder of Sex Development, 46,XY
Käytettävä termi
Androgen-Insensitivity Syndrome
Tyyppi
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Topical Descriptor
Ohjaustermit
- Androgen Insensitivity Syndrome
- Androgen Insensitivity Syndromes
- Androgen Resistance Syndrome
- Androgen Resistance Syndromes
- Insensitivity Syndrome, Androgen
- Insensitivity Syndromes, Androgen
- Male Pseudohermaphroditism Due to Androgen Insensitivity
- Resistance Syndrome, Androgen
- Resistance Syndromes, Androgen
Huomautus
- check the tag MALE
Käyttöhuomautus
- A 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.
Huomautus muutoshistoriasta
- 2002(1968)
Muunkieliset termit
-
ruotsi
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suomi
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androgeeniresistenssi
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mieshormoniresistenssi
URI
http://www.yso.fi/onto/mesh/D013734
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