Abstract
This review summarizes the most recent information on two pathologies linked to mutations of the androgen receptor, namely, the complete androgen insensitivity syndrome (CAIS) and the spinal and bulbar muscular atrophy (SBMA or Kennedy's disease). Data on the clinical manifestations of the two diseases are presented, together with the most relevant findings on their physiopathology and genetics.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Androgen-Insensitivity Syndrome / genetics*
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Androgen-Insensitivity Syndrome / physiopathology
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Aromatase / physiology
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Brain / physiology
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Chromosomes, Human, X / genetics*
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Female
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Genetic Predisposition to Disease
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Humans
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Male
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Muscular Atrophy, Spinal / genetics*
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Muscular Atrophy, Spinal / physiopathology
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Mutation*
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Receptors, Androgen / genetics*
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Sex Differentiation / genetics
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Testosterone / physiology
Substances
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Receptors, Androgen
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Testosterone
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Aromatase