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Details for phenotype: Androgen insensitivity syndromes
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EndoNet ID: ENP00509
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Name
Androgen insensitivity syndromes
General information
This phenotype is pathologic
Androgen insensitivity syndrome is a condition that results in the partial or complete inability of the cell to respond to androgens.
[1]
Links to other resources
GO
cellular response to steroid hormone stimulus
OMIM
300068
MeSH term
D013734
Disease database
12975
Phenotype triggers
AR
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in
prostate
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The androgen receptor (AR) is a high affinity receptor protein encoded on the human X-chromosome that mediates the actions of androgens during development and in the adult. Defects in this receptor protein result in a wide range of abnormalities of male sexual development. Studies in a number of different laboratories have identified mutations of the AR gene in subjects with androgen resistance syndromes.
[2]
Reference
