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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General Support Organizations

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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 77 free, full-text research articles on human participants. First 3 results:

Complete androgen insensitivity syndrome in a young woman with metabolic disorder and diabetes: A case report.
 

Author(s): Peng Yang, Xiang Liu, Jingyang Gao, Shen Qu, Manna Zhang

Journal: Medicine (Baltimore). 2018 Aug;97(33):e11353.

 

Androgen insensitivity syndrome (CAIS) is a rare X-linked recessive androgen receptor disorder characterized by complete resistance to the actions of androgen in an individual with 46,XY karyotype. Metabolic disorder and diabetes has been rarely reported in these patients.

Last Updated: 31 Dec 1969

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Mismatch between fetal sexing and birth phenotype: a case of complete androgen insensitivity syndrome.
 

Author(s): Keisuke Yoshii, Yasuhiro Naiki, Yumiko Terada, Maki Fukami, Reiko Horikawa

Journal: Endocr. J.. 2018 Feb;65(2):221-225.

 

With advancing maternal age, the number of prenatal genetic tests is increasing in many countries. Prenatal genetic tests, such as amniocentesis, chorionic villus sampling and non-invasive prenatal testing, can disclose fetal chromosomal sex, although these tests were originally designed ...

Last Updated: 31 Dec 1969

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Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China.
 

Author(s): Jing He, Shuwu Qi, Huijun Zhang, Jingjing Guo, Shu Chen, Qi Zhang, Baosheng Zhu

Journal: J. Genet.. 2017 Sep;96(4):695-700.

 

Themutations of androgen receptor (AR) gene are the most common cause for complete androgen insensitivity syndrome (CAIS). We aimed to characterize the six cases enrolled in our hospital (the First People's Hospital of Yunnan, China) and explore the molecular mechanism of CAIS. Between ...

Last Updated: 31 Dec 1969

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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 11 free, full-text review articles on human participants. First 3 results:

Androgen insensitivity syndrome: a review.
 

Author(s): Rafael Loch Batista, Elaine M Frade Costa, Andresa de Santi Rodrigues, Nathalia Lisboa Gomes, José Antonio Faria, Mirian Y Nishi, Ivo Jorge Prado Arnhold, Sorahia Domenice, Berenice Bilharinho de Mendonca

Journal: Arch Endocrinol Metab. ;62(2):227-235.

 

Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), ...

Last Updated: 31 Dec 1969

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Update on the Pathophysiology and Risk Factors for the Development of Malignant Testicular Germ Cell Tumors in Complete Androgen Insensitivity Syndrome.
 

Author(s): Martine Cools, Leendert Looijenga

Journal: Sex Dev. 2017 ;11(4):175-181.

 

Prophylactic gonadectomy in young adult women with complete androgen insensitivity syndrome (CAIS) to avoid development of an invasive testicular germ cell tumor (TGCT) is currently advised in most centers. However, women with CAIS increasingly question the need of this procedure. ...

Last Updated: 31 Dec 1969

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Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads.
 

Author(s): Silvano Bertelloni, Maria C Meriggiola, Elenora Dati, Antonio Balsamo, Giampiero I Baroncelli

Journal: Sex Dev. 2017 ;11(4):182-189.

 

Complete androgen insensitivity syndrome (CAIS) is due to complete androgen resistance in androgen-dependent tissues. Since androgens are involved in growth, development, and mass maintenance of the skeleton, bone health may be a relevant clinical issue for improving quality of life ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.