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Androgen insensitivity syndrome


Other Names for this Disease

  • AIS
  • Androgen receptor deficiency
  • DHTR deficiency
  • Dihydrotestosterone receptor deficiency
  • Testicular feminization syndrome (formerly)
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Overview

Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex characteristics or signs of both male and female sexual development. Androgen insensitivity syndrome is caused by mutations in the AR gene and is inherited in an X-linked recessive pattern.[1]
Last updated: 3/30/2011

References

  1. Androgen insensitivity syndrome. Genetics Home Reference. May 2008; http://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome. Accessed 3/30/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on 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. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.¬†
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Androgen insensitivity syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • AIS
  • Androgen receptor deficiency
  • DHTR deficiency
  • Dihydrotestosterone receptor deficiency
  • Testicular feminization syndrome (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.