Print friendly version
Partial androgen insensitivity syndrome
Other Names for this Disease
- Androgen insensitivity syndrome, partial
- Androgen insensitivity, partial, with or without breast cancer
- Androgen resistance syndrome, partial
- Reifenstein syndrome, partial
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
 Androgen insensitivity refers to the inability of the body of an individual with a 46, XY karyotype (usually leading to normal male development) to properly respond to male sex hormones (androgens). In PAIS, the body partially responds to these hormones. Signs and symptoms of PAIS can vary greatly, causing a range of differences in genital appearance. Some individuals have severe hypospadias, an unusually small penis, and bifid scrotum. More severely affected individuals may have female external genitalia with an abnormally large clitoris, partial fusion of the labia and gynecomastia (excessive development of male breasts). In the least severe cases, the only symptom may be infertility. PAIS It is inherited in an X-linked recessive manner and is caused by mutations in the AR gene. Treatment depends on severity and whether the individual is being raised as male or female; management may include surgery, hormone replacement and psychological support.Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development that affects the growing reproductive and genital organs of a fetus.
Last updated: 10/16/2013
- Ieuan Hughes. Partial androgen insensitivity syndrome. Orphanet. January 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90797. Accessed 10/15/2013.
- Androgen Insensitivity Syndrome, Partial. NORD. April 11, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/844/viewAbstract. Accessed 10/15/2013.
- Genetics Home Reference (GHR) contains information on Partial 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.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on 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 an 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.
- 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 Partial androgen insensitivity syndrome. Click on the link to view a sample search on this topic.