CONDITION REFERENCE
Androgen insensitivity syndrome
Information from MedlinePlus Genetics about this condition and how it can be inherited.
About this condition
Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition have one X chromosome and one Y chromosome in each cell. 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.
There are three forms of androgen insensitivity syndrome: complete, partial, and mild.
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.
The partial and mild forms of androgen insensitivity syndrome occur when the body's tissues are partially sensitive to the effects of androgens.
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.
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.
Inheritance
- X-linked recessive
A condition can have several forms with different inheritance patterns. Each pattern may apply to a different gene or form of the condition.
Related genes
MedlinePlus lists these genes for this condition. Open a gene page to read any available ClinGen reviews and ClinVar records.
YOUR DNA FILE
What can your DNA file tell you?
Your DNA file only includes the positions your test checked and reported. Consumer DNA kits usually test selected positions. Sequencing files can also leave out positions that were not reported or where the test could not give a result.
A variant missing from your file does not mean you tested negative for it. A ClinVar classification applies to a particular variant and the condition or finding it was reported for. It does not apply to everyone with that gene. An uncertain finding cannot establish a diagnosis.
BioDecode reads supported DNA files on your computer. It cannot fill gaps in your test, diagnose a condition or replace clinical testing.
Sources and dates
The source information on this page last changed on 2026-09-18.
MedlinePlus Source details
Source release: Fri, 18 Sep 2026 05:17:13 GMT
Source publication: 2025-03-06
Source review: 2024-04
SHA-256: fdc8bd614310c12718379cef6569962e5d0e791cecabcc355b53a72816ac263a
About the library sources · Latest validated release · Record 6abc72c7857b