Diseases & Conditions


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Androgen Insensitivity Syndrome, Partial


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.

    Organizations related to Androgen Insensitivity Syndrome, Partial
    • Accord Alliance
      398 Columbus Avenue #294
      Boston MA 02116
      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
    • MUMS (Mothers United for Moral Support, Inc) 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



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html