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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the AR 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 testosterone, and help direct male sexual development. Specifically, the androgen receptor attaches (binds) to androgen 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 AR 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 class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Androgen insensitivity syndrome?"},{"bodyHtml":"<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 male internal sex organs (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&#x27;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><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"androgen-insensitivity-syndrome","sourceDocuments":[{"name":"Androgen insensitivity syndrome","reviewed":"2024-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:22.694387+00:00","label":"Causes","pageSha256":"c4a927aea8426af66be531feab8d720429e2c46e454740e528fe68451894cfcd","sourceUrl":"https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Androgen insensitivity syndrome"},"schemaVersion":1}