St. Luke's Hospital
Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
Find a Physician Payment Options Locations & Directions
Follow us on: facebook twitter Mobile Email Page Email Page Print Page Print Page Increase Font Size Decrease Font Size Font Size
America's 50 Best Hospitals
Meet the Doctor
Spirit of Women
Community Health Needs Assessment
Home > Health Information

Multimedia Encyclopedia

    Print-Friendly
    Bookmarks

    Androgen insensitivity syndrome

    Testicular feminization

    Androgen insensitivity syndrome (AIS) is when a person who is genetically male (who has one X and one Y chromosome) is resistant to male hormones (called androgens). As a result, the person has some or all of the physical traits of a woman, but the genetic makeup of a man.

    Causes

    Androgen insensitivity syndrome (AIS) is caused by genetic defects on the X chromosome. These defects make the body unable to respond to the hormones that produce a male appearance.

    The syndrome is divided into two main categories:

    • Complete AIS
    • Incomplete AIS

    Complete androgen insensitivity prevents thepenis and other male body parts from developing. At birth, the child looks like a girl. The complete form of the syndrome occurs in as many as 1 in 20,000 live births.

    How many male traits people have differ in incomplete AIS.

    Incomplete AIS can include other disorders, such as:

    • Failure of one or both testes to descend into the scrotum after birth
    • Hypospadias, a conditionin whichthe opening of the urethra is on the underside, instead of at the tip, of the penis
    • Reifenstein syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome)

    Infertile male syndrome is also considered to be part ofincomplete AIS.

    Symptoms

    A person with complete AIS appears to be female but has no uterus, and has very little armpit and pubic hair. At puberty, female sex characteristics (such as breasts) develop. However, the person does not menstruate and become fertile.

    Persons with incomplete AIS may have both male and female physical characteristics. Many have partial closing of the outer vaginal lips, an enlarged clitoris, and a short vagina.

    There may be:

    • A vagina but no cervix or uterus
    • Inguinal hernia with testes that can be felt during a physical exam
    • Normal female breasts
    • Testes in the abdomen or other unusual places in the body

    Exams and Tests

    Complete AIS is rarely discovered during childhood. Sometimes, a growth is felt in the abdomen or groin that turns out to be a testicle when it is explored with surgery. Most people with this condition are not diagnosed until they do not get a menstrual period or they have trouble getting pregnant.

    Incomplete AIS is often discovered during childhood because the person may have both male and female physical traits.

    Tests used to diagnose this condition may include:

    • Blood work to check levels of testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH)
    • Genetic testing (karyotyping)
    • Pelvic ultrasound

    Other blood tests may be done to help tell the difference between AIS and androgen deficiency.

    Treatment

    Testicles that are in the wrong place may not be removed until a child finishes growing and goes through puberty. At this time, the testes may be removed because they can develop cancer, justlike any undescended testicle.

    Estrogen replacement is prescribed after puberty.

    Treatment and gender assignment can be a very complex issue, and must be targeted to each individual person.

    Outlook (Prognosis)

    The outlook for complete AIS is good if the testicle tissue is removed at theright time. The outlook for incomplete AIS depends on the appearance of the genitals.

    Possible Complications

    Complications include:

    • Infertility
    • Psychological and social issues
    • Testicular cancer

    When to Contact a Medical Professional

    Call your health care provider if you or your child have signs or symptoms of the syndrome.

    References

    Wysolmerski JJ. Insogna KL. The parathyroid glands, hypercalcemia, and hypocalcemia. In: Kronenberg HM, Schlomo M, Polansky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. St. Louis, Mo: WB Saunders; 2008:chap 266.

    Bringhurst FR, Demay MB, Kronenberg HM. Disorders of mineral metabolism. In: Kronenberg HM, Schlomo M, Polansky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. St. Louis, Mo: WB Saunders; 2008:chap 27.

    BACK TO TOP

    • Male reproductive anatom...

      illustration

      • Male reproductive anatom...

        illustration

      A Closer Look

        Self Care

          Tests for Androgen insensitivity syndrome

            Review Date: 7/19/2012

            Reviewed By: Shehzad Topiwala, MD, Chief Consultant Endocrinologist, Premier Medical Associates, The Villages, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.

            The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
            adam.com

            A.D.A.M. content is best viewed in IE9 or above, Fire Fox and chrome browser.


            Back  |  Top
            About Us
            Contact Us
            History
            Mission
            Locations & Directions
            Quality Reports
            Annual Reports
            Honors & Awards
            Community Health Needs
            Assessment

            Newsroom
            Services
            Brain & Spine
            Cancer
            Heart
            Maternity
            Orthopedics
            Pulmonary
            Sleep Medicine
            Urgent Care
            Women's Services
            All Services
            Patients & Visitors
            Locations & Directions
            Find a Physician
            Tour St. Luke's
            Patient & Visitor Information
            Contact Us
            Payment Options
            Financial Assistance
            Send a Card
            Mammogram Appointments
            Health Tools
            My Personal Health
            mystlukes
            Spirit of Women
            Health Information & Tools
            Clinical Trials
            Health Risk Assessments
            Employer Programs -
            Passport to Wellness

            Classes & Events
            Classes & Events
            Spirit of Women
            Donate & Volunteer
            Giving Opportunities
            Volunteer
            Physicians & Employees
            For Physicians
            Remote Access
            Medical Residency Information
            Pharmacy Residency Information
            Physician CPOE Training
            Careers
            Careers
            St. Luke's Hospital - 232 South Woods Mill Road - Chesterfield, MO 63017 Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
            Copyright © St. Luke's Hospital Website Terms and Conditions  |  Privacy Policy  |  Patient Notice of Privacy Policies PDF Sitemap St. Luke's Mobile