Androgen insensitivity syndrome
Last updated 6 Mar 2025
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Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition have one X chromosome and one Y chromosome in each cell. In people with androgen insensitivity syndrome, the body's cells and tissues are unable to respond to certain male sex hormones (called androgens) that are important for normal male sexual development before birth and during puberty. As a result, affected individuals may have external sex characteristics that are typical for females or have features of both male and female sexual development.
Description
Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition have one X chromosome and one Y chromosome in each cell. In people with androgen insensitivity syndrome, the body's cells and tissues are unable to respond to certain male sex hormones (called androgens) that are important for normal male sexual development before birth and during puberty. As a result, affected individuals may have external sex characteristics that are typical for females or have features of both male and female sexual development.
There are three forms of androgen insensitivity syndrome: complete, partial, and mild.
Complete androgen insensitivity syndrome occurs when the body does not respond to androgens at all. People with this form of the condition have external sex characteristics that are typical of females. Affected individuals do not have a uterus. They have male internal sex organs (testes) that are undescended, which means they are located in the pelvis or abdomen instead of outside the body. As such, affected individuals do not menstruate and are unable to conceive a child (infertile). People with complete androgen insensitivity syndrome also have sparse or absent hair in the pubic area and under the arms.
The partial and mild forms of androgen insensitivity syndrome occur when the body's tissues are partially sensitive to the effects of androgens.
People with partial androgen insensitivity can have genitalia that look typical for females, genitalia that have both male and female characteristics, or genitalia that look typical for males.
People with mild androgen insensitivity are born with male-typical sex characteristics, but they are often infertile and tend to experience breast enlargement at puberty.
Inheritance patterns
The source lists the following possible inheritance patterns: X-linked recessive. More than one pattern can apply in different cases.
Related genes
Other names
AIS
Androgen receptor deficiency
Androgen resistance syndrome
AR deficiency
DHTR deficiency
Dihydrotestosterone receptor deficiency
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Further reading and references
- Androgen insensitivity syndrome; MedlinePlus, National Library of Medicine.
- Chen MJ, Vu BM, Axelrad M, Dietrich JE, Gargollo P, Gunn S, Macias CG, McCullough LB, Roth DR, Sutton VR, Karaviti LP. Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood. Pediatr Endocrinol Rev. 2015 Jun;12(4):373-87.
- Delli Paoli E, Di Chiano S, Paoli D, Lenzi A, Lombardo F, Pallotti F. Androgen insensitivity syndrome: a review. J Endocrinol Invest. 2023 Nov;46(11):2237-2245. doi: 10.1007/s40618-023-02127-y. Epub 2023 Jun 10.
- Gottlieb B, Pinsky L, Beitel LK, Trifiro M. Androgen insensitivity. Am J Med Genet. 1999 Dec 29;89(4):210-7. doi: 10.1002/(sici)1096-8628(19991229)89:43.0.co;2-p.
- Gottlieb B, Trifiro MA. Androgen Insensitivity Syndrome. 1999 Mar 24 [updated 2017 May 11]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1429/
- Hiort O. Clinical and molecular aspects of androgen insensitivity. Endocr Dev. 2013;24:33-40. doi: 10.1159/000342499. Epub 2013 Feb 1.
- Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J. Androgen insensitivity syndrome. Lancet. 2012 Oct 20;380(9851):1419-28. doi: 10.1016/S0140-6736(12)60071-3. Epub 2012 Jun 13.
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