Androgen Insensitivity Syndrome, Partial
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Androgen Insensitivity Syndrome, Partial is not the name you expected.
Androgen insensitivity refers to an inability of the body to respond properly to male sex hormones (androgens) produced during pregnancy. This occurs because of a change (mutation) in a gene involved in the production of the protein inside cells that receives the androgen hormone and instructs the cell in how to use it.
Partial androgen insensitivity syndrome (pais) is part of a spectrum of syndromes that also includes androgen insensitivity syndrome (AIS) and mild androgen insensitivity syndrome (mais). In each case, the development of the reproductive and genital organs of the fetus is affected, as a result of the gene mutation.
During the first 10 weeks of pregnancy, the external anatomy of male and female embryos appears to be identical. The presence or absence of the male sex hormone testosterone determines whether male or female genitalia develop. In partial androgen insensitivity syndrome, the development of the external genitals will be intermediate between male and female (ambiguous genitalia).
Each of these forms of AIS is also a hereditary form of male pseudohermaphroditism, in which the baby is born with testes and possesses both male and female characteristics. The disorder is inherited as an X-linked, recessive trait.
AIS-DSD Support Group
- P.O. Box 2148
- Duncan, OK 73534-2148
- Email: firstname.lastname@example.org
- Website: http://www.aisdsd.org
- 531 Route 22 East #244
- Whitehouse Station, NJ 08889
- Tel: (908) 349-0534
- Fax: (801) 349-0534
- Email: email@example.com
- Website: http://www.accordalliance.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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Last Updated: 4/11/2008
Copyright 2005 National Organization for Rare Disorders, Inc.
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