Androgen Insensitivity Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Androgen Insensitivity Syndrome?
An endocrinologist (a hormone doctor) often cares for people with androgen insensitivity syndrome. Many people also see a urologist (a doctor for the urinary tract and male reproductive organs). Some see a gynecologist (a doctor for the female reproductive system). A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is androgen insensitivity syndrome?
Androgen insensitivity syndrome (AIS) affects sexual development before birth and during puberty. People with AIS have one X chromosome and one Y chromosome in each cell. The body's cells cannot respond to certain male sex hormones. These hormones are called androgens. Androgens, such as testosterone, help direct male sexual development.
So affected people may have external sex features typical of females. Some have features of both male and female development. There are three forms of AIS: complete, partial, and mild.
Symptoms
Complete AIS occurs when the body does not respond to androgens at all. People with this form have external sex features typical of females. They do not have a uterus. Their testes are undescended. This means the testes sit in the pelvis or abdomen instead of outside the body. They do not menstruate and cannot conceive a child (infertile). They also have sparse or absent hair in the pubic area and under the arms.
The partial and mild forms occur when body tissues are partly sensitive to androgens. People with partial AIS can have genitalia that look female, male, or both. Some have a small penis, undescended testes, or hypospadias. Hypospadias means the opening of the penis is on the underside.
People with mild AIS are born with male-typical sex features. They are often infertile. They tend to have breast growth at puberty.
Causes and who gets it
Variants (also called mutations) in the AR gene cause AIS. The AR gene gives instructions for making a protein called an androgen receptor. Androgen receptors help the body respond to androgens. When they cannot bind to androgens, the body cannot use them, even when hormone levels are normal.
AIS is inherited in an X-linked recessive pattern. The gene is on the X chromosome. Fathers cannot pass X-linked traits to their sons. About 70 percent of cases are inherited from a carrier of an altered AR gene. The other 30 percent come from new variants. These happen before conception or during early development.
Complete AIS affects 2 to 5 in 100,000 newborn females. Partial AIS is thought to be at least as common. Mild AIS is much less common.
How doctors diagnose it
There are no standard diagnostic procedures for partial AIS. Features vary from person to person. Doctors may suspect it from certain features. Examples are female-appearing genitals and no female sex organs (ovaries and the uterus). Issues with sperm production can also be a sign. Genetic testing can show XY chromosomes.
To confirm the diagnosis, genetic testing can look for changes in the AR gene. If testing finds no changes, an androgen binding assay may measure androgen receptors. An assay is a lab test. Blood tests may show normal or high levels of testosterone and luteinizing hormone, which the pituitary gland in the brain makes.
Treatment
Doctors with special training in disorders of sex development should check the patient. This team may include a urologist, a gynecologist, a genetics expert, a psychiatrist, a psychologist, or a hormone doctor.
For complete AIS, doctors advise removing the testes because the tumor risk can rise in adult life. This is usually done after puberty, which lets puberty happen on its own. Estrogen (a female sex hormone) is needed after the testes are removed. People who keep their testes need regular tumor checks.
For partial AIS, the care team and the family weigh how the child will be raised, hormone therapy, surgery, and tumor risk if the testes stay in place.
Genetic counseling for patients and their families is also advised.
When to see a doctor
Contact a health care provider if a baby has genitals that look neither clearly male nor female (ambiguous genitalia). Also see a doctor if periods do not start.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Your doctor can order blood tests and follow hormone levels over time. They can also coordinate care among your specialists.
Common questions
What causes androgen insensitivity syndrome?
Variants (changes) in the AR gene cause it. The AR gene makes a protein called an androgen receptor. When the receptor does not work, the body cannot use androgens, even when hormone levels are normal.
Is androgen insensitivity syndrome inherited?
Yes. It is inherited in an X-linked recessive pattern. The gene is on the X chromosome. About 70 percent of cases are inherited from a person who carries an altered copy of the AR gene.
Can people with AIS have children?
It depends on the form of AIS. People with complete AIS cannot conceive a child (infertile). People with mild AIS are often infertile. Many with partial AIS are also infertile, because they make no or very little sperm.
What are the three forms of AIS?
The forms are complete, partial, and mild. Complete AIS occurs when the body does not respond to androgens at all. The partial and mild forms occur when body tissues are partially sensitive to androgens.
Sources
- MedlinePlus Genetics - Androgen insensitivity syndrome
- National Organization for Rare Disorders (NORD) - Partial Androgen Insensitivity Syndrome
- NCBI Bookshelf (StatPearls) - Androgen Insensitivity Syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
