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Diseases

Genetic and Rare Diseases Information Center (GARD)

Complete androgen insensitivity syndrome


Other Names for this Disease
  • CAIS
  • Androgen insensitivity syndrome, complete
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Complete androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male (one X and one Y chromosome) but do not respond to male hormones at all. As a result, they generally have normal female external genitalia and female breasts. However, they do not have a uterus or cervix so are unable to menstruate or conceive children. Other signs and symptoms may include undescended testes and sparse to absent pubic hair. Gender identity is typically female. Complete androgen insensitivity syndrome is caused by changes (mutations) in the AR gene and is inherited in an X-linked manner. Treatment and gender assignment can be a very complex issue, and must be individualized with each affected person. In general, surgery may be required to remove testes that are located in unusual places and estrogen replacement therapy can be prescribed after puberty.[1][2][3]
Last updated: 11/18/2015

References

  1. Androgen insensitivity syndrome. Genetics Home Reference. May 2008; http://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome.
  2. Androgen insensitivity syndrome. MedlinePlus. September 2014; https://www.nlm.nih.gov/medlineplus/ency/article/001180.htm.
  3. Bruce Gottlieb, PhD, Lenore K Beitel, PhD, and Mark A Trifiro, MD. Androgen Insensitivity Syndrome. GeneReviews. July 2014; http://www.ncbi.nlm.nih.gov/books/NBK1429/#androgen.Clinical_Description.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Complete androgen insensitivity syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Complete androgen insensitivity syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CAIS
  • Androgen insensitivity syndrome, complete
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.