Androgen insensitivity syndrome

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Androgen Insensitivity Syndrome (pronunciation: an-dro-jen in-sen-si-tiv-i-ty sin-drome) is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, because they have a mutation in the AR gene.

Etymology

The term "Androgen Insensitivity Syndrome" is derived from the Greek words "Andro" meaning male, "Gen" meaning producing, "In" meaning not, "Sensitivity" meaning responsive to and "Syndrome" meaning a group of symptoms.

Related Terms

  • Androgen: A type of hormone that promotes the development and maintenance of male sex characteristics.
  • Syndrome: A group of symptoms that consistently occur together or a condition characterized by a set of associated symptoms.
  • AR gene: The gene provides instructions for making a protein called an androgen receptor. Androgens and androgen receptors play a key role in male sexual development.
  • Mutation: A change in the DNA sequence that makes up a gene.
  • X chromosome: One of the two sex chromosomes in humans. Females have two X chromosomes in all cells and males have one X and one Y chromosome in each cell.
  • Y chromosome: The sex chromosome found only in males. It contains the sex-determining gene SRY, which triggers male development.

Symptoms

People with Androgen Insensitivity Syndrome are resistant to male hormones (androgens). As a result, they may have mostly female sex characteristics or signs of both male and female sexual development.

Causes

Androgen Insensitivity Syndrome is caused by mutations in the AR gene. This gene provides instructions for making a protein called an androgen receptor. Androgens and androgen receptors play a key role in male sexual development.

Treatment

Treatment for Androgen Insensitivity Syndrome typically involves hormone therapy and, in some cases, surgery to correct undescended testes or remove female reproductive structures.

See Also

External links

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