Diseases & Conditions


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Swyer syndrome


Synonyms of Swyer syndrome
  • 46, XY CGD
  • 46, XY Complete Gonadal Dysgenesis
  • 46, XY Pure Gonadal Dysgenesis
  • Gonadal Dysgenesis, XY Female Type

Disorder Subdivisions



    General Discussion
    Swyer syndrome is a rare disorder characterized by the failure of the sex glands (i.e., testicles or ovaries) to develop. Swyer syndrome is classified as a disorder of sex development or a DSD, which encompasses any disorder in which chromosomal, gonadal or anatomic sex development is abnormal. Girls with Swyer syndrome have an XY chromosomal makeup (as boys normally do) instead of an XX chromosomal makeup (as girls normally do). Despite having the XY chromosomal makeup, girls with Swyer syndrome look female and have functional female genitalia and structures including a vagina, uterus and fallopian tubes.

    Girls with Swyer syndrome lack sex glands (ovaries). Instead of sex glands, women with Swyer syndrome have gonadal streaks, in which the ovaries do not develop properly (aplasia) and are replaced by functionless scar (fibrous) tissue. Because they lack ovaries, girls with Swyer syndrome do not produce sex hormones and will not undergo puberty (unless treated with hormone replacement therapy). Mutations to a few different genes are known to cause Swyer syndrome. Swyer syndrome usually occurs as a random event, but, in rare cases, can also be inherited in an autosomal dominant, autosomal recessive, X-linked or Y-linked manner.

    Organizations related to Swyer syndrome
    • 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
    • Genetic Alliance
      4301 Connecticut Avenue NW
      Washington DC 20008-2304
      Phone #: 202-966-5557
      800 #: 800-336-4363
      e-mail: membership@geneticalliance.org
      Home page: http://www.geneticalliance.org
    • National Infertility Association
      7910 Woodmont Avenue
      Bethesda MD 208814
      Phone #: 301-652-8585
      800 #: --
      e-mail: info@resolve.org
      Home page: http://www.resolve.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