The Molecular Basis of Androgen Insensitivity

    January 2000 in “ Hormone Research in Paediatrics ”
    Esther M. Nitsche, Olaf Hiort
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    TLDR Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
    The document from 2000 examines the molecular basis of Androgen Insensitivity Syndrome (AIS), which is caused by mutations in the androgen receptor (AR) gene. These mutations can lead to a wide range of phenotypes due to factors such as variable androgen levels during fetal development, mosaicism from postzygotic mutations, and differences in AR transcripts. The study notes that most mutations are point mutations affecting hormone or DNA binding, and that the length of CAG repeats in the AR gene correlates with various conditions, with shorter repeats increasing androgen action and longer repeats decreasing it. The paper emphasizes the importance of understanding AR-dependent gene regulation to fully grasp the mechanisms of sexual differentiation and maturation.
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