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Condition

Androgen Insensitivity Syndrome

Symptoms, Doctors, Treatments, Research & More

Condition 101

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

What are the alternative names for Androgen Insensitivity Syndrome?

Testicular feminization

What are the causes for 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 for 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

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 is prescribed after puberty.

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

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. The outlook for partial AIS depends on the appearance of the genitals.

What are the possible complications for 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
Female
Female
Karyotyping

REFERENCES

Achermann JC, Hughes IA. Pediatric disorders of sex development. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology. 13th ed. Philadelphia, PA: Elsevier; 2016:chap 23.

Diamond DA, Nithiphaisal R. Disorders of sexual development: etiology, evaluation, and medical management. In: Wein AJ, Kavoussi LR, Partin AW, Peters CA, eds. Campbell-Walsh Urology. 11th ed. Philadelphia, PA: Elsevier; 2016:chap 150.

Donohoue PA. Disorders of sex development. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 588.

Top Global Doctors

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Martine C. Cools
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Ieuan A. Hughes
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Stenvert S. Drop
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Latest Research

Latest Advance
Study
  • Condition: Gonadal Germ Cell Cancer (GGCC)
  • Journal: Hormone research in paediatrics
  • Treatment Used: Gonadectomy
  • Number of Patients: 192
  • Published —
This study investigated the clinical outcome of performing a gonadectomy in those with high risk of GGCC due to partial or complete androgen insensitivity syndrome.

Clinical Trials

There are no recent clinical trials available for this condition. Please check back because new trials are being conducted frequently.