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Androgen Insensitivity Syndrome, Partial
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Copyright 1991, 2005
Synonyms of Androgen Insensitivity Syndrome, Partial
- Gilbert-Dreyfus Syndrome
- Incomplete Testicular Feminization
- Lubs Syndrome
- Reifenstein Syndrome
- Rosewater Syndrome
- Type I Familial Incomplete Male Pseudohermaphroditism
Disorder Subdivisions
General Discussion
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.
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Organizations related to Androgen Insensitivity Syndrome, Partial
- Accord Alliance
398 Columbus Avenue #294
Boston MA 02116-6008
Phone #: 617-488-9770
800 #: N/A
e-mail: anthony.asciutto@accordalliance.org
Home page: http://www.accordalliance.org
- Androgen Insensitivity Syndrome Support Group (AISSG)
P.O. Box 2148
Duncan OK 73534-2148
Phone #: N/A
800 #: --
e-mail: aissgusa@hotmail.com
Home page: http://www.aissgusa.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
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