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<span>Androgen insensitivity syndrome</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome/</span>
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<article>
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<div class="page-title">
<a name="start" id="start"></a>
<h1>Androgen insensitivity syndrome</h1>
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<noscript><span class="js-disabled-message">To use the sharing features on this page, please enable JavaScript.</span></noscript>
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<div class="main">
<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition have <a class="image-modal" data-alt="A normal male karyotype, it contains 22 pairs of autosomal chromosomes and one pair of sex chromosomes." data-caption="" data-credit="National Cancer Institute" data-filepath="images/PX000024_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000024" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=2721" data-title="Normal human male karyotype" href="https://medlineplus.gov/images/PX000024_PRESENTATION.jpeg" id="PX000024_1" title="Show image">one X chromosome and one Y chromosome<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> in each cell, which is typical for males. In people with androgen insensitivity syndrome, the body's cells and tissues are unable to respond to certain male sex hormones (called androgens) that are important for normal male sexual development before birth and during puberty. As a result, affected individuals may have external sex characteristics that are typical for females or have features of both male and female sexual development.</p><p>There are three forms of androgen insensitivity syndrome: complete, partial, and mild.</p><p>Complete androgen insensitivity syndrome occurs when the body does not respond to androgens at all. People with this form of the condition have external sex characteristics that are typical of females. Affected individuals do not have a uterus. They have <a class="image-modal" data-alt="Anatomy of the male reproductive and urinary systems showing the prostate, testicles, bladder, and other organs." data-caption="Anatomy of the male reproductive and urinary systems showing the prostate, testicles, bladder, and other organs." data-credit="© 2005 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001WA_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001WA" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9806" data-title="Male reproductive system" href="https://medlineplus.gov/images/PX0001WA_PRESENTATION.jpeg" id="PX0001WA_2" title="Show image">male internal sex organs<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> (testes) that are undescended, which means they are located in the pelvis or abdomen instead of outside the body. As such, affected individuals do not menstruate and are unable to conceive a child (infertile). People with complete androgen insensitivity syndrome also have sparse or absent hair in the pubic area and under the arms.</p><p>The partial and mild forms of androgen insensitivity syndrome occur when the body's tissues are partially sensitive to the effects of androgens. </p><p>People with partial androgen insensitivity can have genitalia that look typical for females, genitalia that have both male and female characteristics, or genitalia that look typical for males.  </p><p>People with mild androgen insensitivity are born with male-typical sex characteristics, but they are often infertile and tend to experience breast enlargement at puberty.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>Complete androgen insensitivity syndrome affects 2 to 5 in 100,000 newborns who are assigned female at birth. Partial androgen insensitivity is thought to be at least as common as complete androgen insensitivity. Mild androgen insensitivity is much less common.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Variants (also called mutations) in the <em><a data-pid="17261" href="https://medlineplus.gov/genetics/gene/ar/">AR</a></em> gene cause androgen insensitivity syndrome. This gene provides instructions for making a protein called an androgen receptor. Androgen receptor proteins interact with androgen hormones, such as <a class="image-modal" data-alt="Diagram showing the chemical signaling pathway triggered by testosterone." data-caption="" data-credit="Meletios/Shutterstock.com" data-filepath="images/PX0000VO_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000VO" data-sourceurl="" data-title="Testosterone signaling pathway within a cell" href="https://medlineplus.gov/images/PX0000VO_PRESENTATION.jpeg" id="PX0000VO_2" title="Show image">testosterone,<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and help direct male sexual development. Specifically, the androgen receptor attaches (binds) to androgen <style>.cf0{font-family:Segoe UI;font-size:9pt;}</style>hormones to form an androgen-receptor complex. This complex then binds to DNA to regulate the activity of certain genes that play a role in male sexual development. Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive. </p><p>Variants in the <em>AR</em> gene prevent androgen receptors from working properly, which makes them less able to bind to testosterone and regulate gene activity. If androgen receptors cannot bind to androgens, the body cannot use androgens, even if there are normal levels of these hormones in the body. </p><p><br/></p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with Androgen insensitivity syndrome</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/ar/">AR</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="Two generations of a family with an X-linked recessive disorder. In this form of inheritance, the chance of being affected or being a carrier depends on whether the mother or the father has the mutated gene on the X chromosome." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX000068_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000068" data-sourceurl="" data-title="X-linked recessive inheritance" href="https://medlineplus.gov/images/PX000068_PRESENTATION.jpeg" id="PX000068_1" title="Show image">X-linked recessive pattern<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. The gene associated with this condition is located on the X chromosome, which is one of the two <a class="image-modal" data-alt="Karyotype showing 22 autosomes and 2 sex chromsomes, either two X chromosomes or an X chromosome and a Y chromosome." data-caption="The X chromosome is one of two sex chromosomes. Humans and most mammals have two sex chromosomes, the X and Y. Females have two X chromosomes in their cells, while males have X and Y chromosomes in their cells. Egg cells all contain an X chromosome, while sperm cells contain an X or a Y chromosome. This arrangement means that during fertilization, it is the male that determines the sex of the offspring." data-credit="Darryl Leja, NHGRI" data-filepath="images/PX0000HO_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000HO" data-sourceurl="" data-title="Sex chromosomes (X and Y)" href="https://medlineplus.gov/images/PX0000HO_PRESENTATION.jpeg" id="PX0000HO_2" title="Show image">sex chromosomes<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. In individuals who have only one X chromosome (typical for males), one altered copy of the gene in each cell is sufficient to cause the condition. In people who have two X chromosomes (typical for females), a variant would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that both copies of a gene would be altered, people with one X chromosome are affected by X-linked recessive disorders much more frequently than those with two. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.</p>
<p>
<span>
About 70 percent of all cases of androgen insensitivity syndrome are inherited from people who carry an altered copy of the
</span>
<em>
<a data-pid="17261" href="https://medlineplus.gov/genetics/gene/ar/">
AR</a></em>
<span>
gene on one of their two X chromosomes. The remaining 30 percent of cases result from new (<em>de novo</em>) variants in the gene that occur in the egg cell before the child is conceived or during early embryonic development.</span>
</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>AIS</li> <li>Androgen receptor deficiency</li> <li>Androgen resistance syndrome</li> <li>AR deficiency</li> <li>DHTR deficiency</li> <li>Dihydrotestosterone receptor deficiency</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0039585/" target="TheNewWin">Genetic Testing Registry: Androgen resistance syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0268301/" target="TheNewWin">Genetic Testing Registry: Partial androgen insensitivity syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/5803/index" target="TheNewWin">Androgen insensitivity syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://rarediseases.info.nih.gov/diseases/10597/index" target="TheNewWin">Complete androgen insensitivity syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://rarediseases.info.nih.gov/diseases/5692/index" target="TheNewWin">Partial androgen insensitivity syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Clinical Trials</h2>
<ul>
<li><a href="https://clinicaltrials.gov/search?cond=%22Androgen insensitivity syndrome%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/300068" target="TheNewWin">ANDROGEN INSENSITIVITY SYNDROME; AIS</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28Androgen-Insensitivity+Syndrome%5BMAJR%5D%29+AND+%28androgen+insensitivity+syndrome%5BTIAB%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1080+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Chen MJ, Vu BM, Axelrad M, Dietrich JE, Gargollo P, Gunn S, Macias CG,
McCullough LB, Roth DR, Sutton VR, Karaviti LP. Androgen Insensitivity Syndrome:
Management Considerations from Infancy to Adulthood. Pediatr Endocrinol Rev. 2015
Jun;12(4):373-87. <a href="https://pubmed.ncbi.nlm.nih.gov/26182482" target="TheNewWin">Citation on PubMed</a></li>
<li>Delli Paoli E, Di Chiano S, Paoli D, Lenzi A, Lombardo F, Pallotti F. Androgen
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