Learn About Androgen Insensitivity Syndrome

What is the definition of Androgen Insensitivity Syndrome?

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 of the physical traits of a woman, but the genetic makeup of a man.

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What are the alternative names for Androgen Insensitivity Syndrome?

Testicular feminization

What are the causes of 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
  • Partial AIS

In complete AIS, the penis and other male body parts fail to develop. 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.

In partial AIS, people have different numbers of male traits.

Partial AIS can include other disorders, such as:

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

Infertile male syndrome is also considered to be part of partial AIS.

What are the symptoms of Androgen Insensitivity Syndrome?

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

People with partial AIS may have both male and female physical characteristics. Many have partial closing of the outer vagina, 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 atypical places in the body
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What are the current treatments for Androgen Insensitivity Syndrome?

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, just like any undescended testicle.

Estrogen replacement may be prescribed after puberty.

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

Who are the top Androgen Insensitivity Syndrome Local Doctors?
Elite
Highly rated in
14
conditions

Ghent University

Gent, VLG, BE 

Martine Cools is in Gent, Belgium. Cools is rated as an Elite expert by MediFind in the treatment of Androgen Insensitivity Syndrome. She is also highly rated in 14 other conditions, according to our data. Her top areas of expertise are Intersex, Androgen Insensitivity Syndrome, Partial Androgen Insensitivity Syndrome, and Swyer Syndrome.

Elite
Highly rated in
6
conditions

Universidade De São Paulo

Sao Paulo, SP, BR 

Rafael Batista is in Sao Paulo, Brazil. Batista is rated as an Elite expert by MediFind in the treatment of Androgen Insensitivity Syndrome. He is also highly rated in 6 other conditions, according to our data. His top areas of expertise are Intersex, Androgen Insensitivity Syndrome, Partial Androgen Insensitivity Syndrome, and Frasier Syndrome.

 
 
 
 
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Distinguished
Highly rated in
11
conditions

University Of Cambridge

Cambridge, ENG, GB CB20Q

Ieuan Hughes is in Cambridge, United Kingdom. Hughes is rated as a Distinguished expert by MediFind in the treatment of Androgen Insensitivity Syndrome. He is also highly rated in 11 other conditions, according to our data. His top areas of expertise are Partial Androgen Insensitivity Syndrome, Intersex, Androgen Insensitivity Syndrome, and Swyer Syndrome.

What is the outlook (prognosis) for Androgen Insensitivity Syndrome?

The outlook for complete AIS is good if the testicle tissue is removed at the right time to prevent cancer.

What are the possible complications of Androgen Insensitivity Syndrome?

Complications include:

  • Infertility
  • Psychological and social issues
  • Testicular cancer
When should I contact a medical professional for Androgen Insensitivity Syndrome?

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

Male reproductive anatomy
Female reproductive anatomy
Female reproductive anatomy
Karyotyping
What are the latest Androgen Insensitivity Syndrome Clinical Trials?
Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity
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What are the Latest Advances for Androgen Insensitivity Syndrome?
Management of Gonads in Adults with Androgen Insensitivity: An International Survey.
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Who are the sources who wrote this article ?

Published Date : July 21, 2020
Published By : Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Chan Y-M, Hannema SE, Achermann JC, Hughes IA. Disorders of sex development. In: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Textbook of Endocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020:chap 24.

Donohoue PA. Disorders of sex development. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 606.

Yu RN, Diamond DA. Disorders of sexual development: etiology, evaluation, and medical management. In: Partin AW, Dmochowski RR, Kavoussi LR, Peters CA, eds. Campbell-Walsh-Wein Urology. 12th ed. Philadelphia, PA: Elsevier; 2021:chap 48.