Androgen Insensitivity Syndrome

Common Name(s)

Androgen Insensitivity Syndrome, Androgen Resistance Syndrome

Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex characteristics or signs of both male and female sexual development. There are three types of androgen insensitivity syndrome which vary in severity. There are different management options, so talk to your doctor about the best care plan if you or your child has been diagnosed with androgen insensitivity syndrome. For more information about the different types, please visit: mild androgen insensitivity syndrome; partial androgen insensitivity syndrome; or complete androgen insensitivity syndrome.

Androgen insensitivity syndrome is caused by mutations in the AR gene on the X chromosome. It is inherited (runs in families) as an X-linked recessive trait. Normally, we have two copies of every gene, one on a chromosome inherited from each of our birth parents. Recessive means that both copies of the gene must have the change which causes the condition. However, the sex chromosomes are different. A male has one X and one Y chromosome, whereas a female has two X chromosomes. So a male only has one copy of a gene on the X chromosome, and if this one copy has the mutation, he will have androgen insensitivity syndrome. Talk with a genetic counselor if you or a family member has been diagnosed with androgen insensitivity syndrome.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Androgen Insensitivity Syndrome" for support, advocacy or research.

AIS-DSD Support Group

The AIS-DSD Support Group is a compassionate community of individuals, families and allies collaborating to promote better lives and informed decision-making through advancement of knowledge so no one will face a diagnosis alone.

Last Updated: 12 Jan 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Androgen Insensitivity Syndrome" for support, advocacy or research.

AIS-DSD Support Group

The AIS-DSD Support Group is a compassionate community of individuals, families and allies collaborating to promote better lives and informed decision-making through advancement of knowledge so no one will face a diagnosis alone.

http://www.aisdsd.org

Last Updated: 12 Jan 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Androgen Insensitivity Syndrome" returned 59 free, full-text research articles on human participants. First 3 results:

Testicular feminization: complete androgen insensitivity syndrome. Discussions based on a case report.
 

Author(s): Constantin Gîngu, Alexandru Dick, Sorin Pătrăşcoiu, Liliana Domnişor, Mihaela Mihai, Mihai Hârza, Ioanel Sinescu

Journal: Rom J Morphol Embryol. 2014 ;55(1):177-81.

 

Testicular feminization is the syndrome when a male, genetically XY, because of various abnormalities of the X chromosome, is resistant to the actions of the androgen hormones, which in turn stops the forming of the male genitalia and gives a female phenotype. The androgen insensitivity ...

Last Updated: 9 Apr 2014

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A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome.
 

Author(s): Zofia Helszer, Anita Dmochowska, Edyta Borkowska, Hanna Moczulska, Jolanta Słowikowska-Hilczer, Michał Pietrusiński, Sławomir Jędrzejczyk, Bogdan Kałużewski

Journal: Endokrynol Pol. 2013 ;64(5):398-402.

 

Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD), and are associated with a variety of phenotypes ranging from phenotypic women (Complete Androgen Insensitivity Syndrome or CAIS) to milder degrees of undervirilisation (Partial ...

Last Updated: 4 Nov 2013

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Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology.
 

Author(s): Jana Kaprova-Pleskacova, Hans Stoop, Hennie Brüggenwirth, Martine Cools, Katja P Wolffenbuttel, Stenvert L S Drop, Marta Snajderova, Jan Lebl, J Wolter Oosterhuis, Leendert H J Looijenga

Journal: Mod. Pathol.. 2014 May;27(5):721-30.

 

Patients with complete androgen insensitivity syndrome are at an increased risk for the development of gonadal germ cell cancer. Residual androgen receptor (AR) activity and abnormal gonadal location may influence the survival of atypical germ cells and the development of other histopathological ...

Last Updated: 5 May 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Androgen Insensitivity Syndrome" returned 6 free, full-text review articles on human participants. First 3 results:

Androgen insensitivity syndrome.
 

Author(s): Ieuan A Hughes, John D Davies, Trevor I Bunch, Vickie Pasterski, Kiki Mastroyannopoulou, Jane MacDougall

Journal: Lancet. 2012 Oct;380(9851):1419-28.

 

Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concentrations of androgens. Pathogenesis is the result of mutations in the ...

Last Updated: 22 Oct 2012

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Androgen insensitivity syndrome: clinical features and molecular defects.
 

Author(s): Angeliki Galani, Sophia Kitsiou-Tzeli, Christalena Sofokleous, Emmanuel Kanavakis, Ariadni Kalpini-Mavrou

Journal: Hormones (Athens). ;7(3):217-29.

 

The end-organ resistance to androgens has been designated as androgen insensitivity syndrome (AIS), an X-linked disorder caused by mutations in the androgen receptor (AR) gene. It is generally accepted that defects in the AR gene prevent the normal development of both internal and ...

Last Updated: 12 Aug 2008

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[Androgen insensitivity syndrome].
 

Author(s): Yvonne Lundberg Giwercman, Johan Svensson

Journal: Tidsskr. Nor. Laegeforen.. 2008 Feb;128(5):581-5.

 

Androgen insensitivity is caused by mutations in the androgen receptor gene, and is a common etiological factor to ambiguous genitalia in the newborn. This article discusses the role of androgens in sex differentiation, the structure and function of the androgen receptor, the genetic ...

Last Updated: 3 Mar 2008

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.