Androgen Insensitivity Syndrome - Sexual Development, Testosterone And Its Receptor, The Consequences Of Androgen Insensitivity, The Androgen Receptor Gene And Protein

chromosome genetic male female ais disorder

Androgen insensitivity syndrome (AIS) is a disorder caused by mutation of the gene for the androgen receptor. This protein binds testosterone and regulates the expression of other genes that stimulate male sexual development. Testosterone is the principal male androgen. AIS is an X-linked recessive disorder that completely or partially prevents development of male sexual characteristics despite the presence of the Y chromosome. Thus, the phenotype of a person with AIS, typified by female or ambiguous sexual characteristics, is at odds with the genotype, which includes the presence of both the X and Y, or male-determining, chromosomes.

The extent of the syndrome ranges from complete androgen insensitivity and development of normal external (but not internal) female sexual anatomy, to partial insensitivity, with altered or ambiguous male or female genitals, to mild insensitivity, with normal male genitals, enlarged breasts, and possibly impotence. Treatments depend on the extent of the syndrome, and may include hormone therapy, surgery, and psychological counseling. Gene testing and genetic counseling are available for families with affected members.

Additional Topics

Androgen Insensitivity Syndrome - Sexual Development

AIS can best be understood against the background of normal human sexual development, which begins in the womb. The gonads arise from the same embryonic tissue, which is differentiated into one or the other by the actions of several genes not involved in AIS. In males, the most important gene is SRY, located on the Y chromosome. When present, this causes testis development. The genes responsible f…

Androgen Insensitivity Syndrome - Testosterone And Its Receptor

Testosterone is a hormone, a molecule released in one set of cells that regulates the action of other cells. Testosterone exerts its action on these target cells by first binding with a receptor, called the androgen receptor (AR). The receptor is a protein that resides within the target cell. The testosterone-receptor complex moves to the nucleus of the target cell, where it acts as a transcriptio…

Androgen Insensitivity Syndrome - The Consequences Of Androgen Insensitivity

Androgen Insensitivity Syndrome - The Androgen Receptor Gene And Protein

The AR gene is located on the long arm of the X chromosome, at a location that is designated as Xq11-q12. The gene is about 90,000 nucleotides Testosterone from the testis binds to the androgen receptor. This complex then triggers gene expression. Mutation in the receptor prevents either testosterone binding (a), DNA binding (b), or some other activity. long, though fewer than 3,000 of these…

Androgen Insensitivity Syndrome - The Range Of Androgen Insensitivity Syndromes

AIS occurs in a range of forms, from complete to mild. Most mutations to the testosterone-binding region, and some other types of mutations, cause complete androgen insensitivity syndrome (CAIS). In this form of the syndrome, the XY person is born phenotypically female, and from birth is raised as a girl. Gender identification (the internal sense of being male or female) is female. Sexual orientat…

Androgen Insensitivity Syndrome - Kennedy Disease

Kennedy disease is a neurological condition that is also due to a mutation of the androgen receptor gene. Affected individuals are phenotypically normal males who are fertile, although after puberty they may develop enlarged breasts, consistent with very mild androgen insensitivity. The disorder causes progressive weakness over several decades, along with tremor, difficulty swallowing, and some se…

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about 1 month ago

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