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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]
References
- Androgen insensitivity syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome. Accessed March 30, 2011.
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General Information
- Genetics Home Reference (GHR) contains information on Androgen insensitivity syndrome. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this 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.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Androgen insensitivity syndrome. Click on the link to go to OMIM and review these resources.