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Androgen Receptor Mutation

Meaning

A change in the genetic code of the androgen receptor gene is defined as an Androgen Receptor Mutation. This alteration results in a structural modification of the androgen receptor protein, which is crucial for mediating the effects of androgens like testosterone and dihydrotestosterone throughout the body. Clinically, these mutations can lead to conditions such as Androgen Insensitivity Syndrome or contribute to the progression of certain hormone-sensitive cancers, like prostate cancer, by altering how the cell responds to hormonal signals. The functional consequence of the mutation determines the severity and manifestation of the resulting endocrinopathy or disease state.