Androgen Insensitivity Syndrome

Introduction: Androgen Insensitivity Syndrome

Androgen Insensitivity Syndrome: Females with male XY genetics but inability to respond to testosterone. More detailed information about the symptoms, causes, and treatments of Androgen Insensitivity Syndrome is available below.

Symptoms of Androgen Insensitivity Syndrome

• Female body type
• Tallness
• Female infertility
• Lack of periods
• Delayed menarche

See full list of 28 symptoms of Androgen Insensitivity Syndrome

Medical Textbooks Online about Androgen Insensitivity Syndrome

Book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

Diagnostic Tests for Androgen Insensitivity Syndrome

• Genetic tests - to test for XX versus XY sex chromosomes.
• Scans - to detect the testes

Read more about tests for Androgen Insensitivity Syndrome

Wrongly Diagnosed with Androgen Insensitivity Syndrome?

• Misdiagnosis of Androgen Insensitivity Syndrome

Causes of Androgen Insensitivity Syndrome

Read more about causes of Androgen Insensitivity Syndrome.

Treatments for Androgen Insensitivity Syndrome

• Surgical testes removal - to prevent later testicular cancer
• Estrogen replacement therapy
• Vaginal cosmetic surgery - to create a normal length vagina if required.

Read more about treatments for Androgen Insensitivity Syndrome

Videos for Androgen Insensitivity Syndrome

Patient Surveys for Androgen Insensitivity Syndrome

• Patient Profile Survey
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• Survey about the symptoms of your Androgen Insensitivity Syndrome
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Statistics for Androgen Insensitivity Syndrome

• Medical statistics for Androgen Insensitivity Syndrome
• Prevalence and incidence statistics for Androgen Insensitivity Syndrome
• Death and Mortality statistics for Androgen Insensitivity Syndrome
• Society statistics for Androgen Insensitivity Syndrome

Stories from Users Related to Androgen Insensitivity Syndrome

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• Extra Large Hives due to stress
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• I would like to have a real diagnosis (possibly resistant TB?)
• Esophegeal Stricture due to caustic burns
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Definitions of Androgen Insensitivity Syndrome:

A familial form of PSEUDOHERMAPHRODITISM transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN; AR) gene. Severity of the defect in AR quantity or quality correlates with their phenotypes. The phenotype spectrum varies from those with normal female external genitalia in ANDROGEN-INSENSITIVITY SYNDROME, through those with genital ambiguity in Reifenstein Syndrome, to that of a normal male with INFERTILITY. - (Source - Diseases Database)

Androgen Insensitivity Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Androgen Insensitivity Syndrome, or a subtype of Androgen Insensitivity Syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Androgen Insensitivity Syndrome as a "rare disease".
Source - Orphanet