What is Androgen Insensitivity Syndrome?
What is Androgen Insensitivity Syndrome?
- Androgen Insensitivity Syndrome: Females with male XY genetics but inability to respond to testosterone.
- 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
Androgen Insensitivity Syndrome: Introduction
Types of Androgen Insensitivity Syndrome:
Broader types of Androgen Insensitivity Syndrome:
How many people get Androgen Insensitivity Syndrome?
Prevalance of Androgen Insensitivity Syndrome: very rare
Who gets Androgen Insensitivity Syndrome?
Patient Profile for Androgen Insensitivity Syndrome: Usually detected in late teens due to lack of menstruation after puberty.
Gender Profile for Androgen Insensitivity Syndrome: Women only. (Although they actually XY males genetically speaking.)
How serious is Androgen Insensitivity Syndrome?
Complications of Androgen Insensitivity Syndrome:
see complications of Androgen Insensitivity Syndrome
What causes Androgen Insensitivity Syndrome?
Causes of Androgen Insensitivity Syndrome: see causes of Androgen Insensitivity Syndrome
Cause of Androgen Insensitivity Syndrome: Genetic error in cell receptors for androgen hormones causing the body not to respond to any hormones produced by the testes and "defaulting" to female appearance.
What are the symptoms of Androgen Insensitivity Syndrome?
Symptoms of Androgen Insensitivity Syndrome:
see symptoms of Androgen Insensitivity Syndrome
Complications of Androgen Insensitivity Syndrome:
see complications of Androgen Insensitivity Syndrome
Can anyone else get Androgen Insensitivity Syndrome?
Inheritance:
see inheritance of Androgen Insensitivity Syndrome
Inheritance of genetic conditions: see details in inheritance of genetic diseases.
Androgen Insensitivity Syndrome: Testing
Diagnostic testing: see tests for Androgen Insensitivity Syndrome.
Misdiagnosis: see misdiagnosis and Androgen Insensitivity Syndrome.
How is it treated?
Treatments for Androgen Insensitivity Syndrome:
see treatments for Androgen Insensitivity Syndrome
Research for Androgen Insensitivity Syndrome:
see research for Androgen Insensitivity Syndrome
Organs Affected by Androgen Insensitivity Syndrome:
Organs and body systems related to Androgen Insensitivity Syndrome include:
Name and Aliases of Androgen Insensitivity Syndrome
Main name of condition: Androgen Insensitivity Syndrome
Class of Condition for Androgen Insensitivity Syndrome: genetic x-linked recessive
Other names or spellings for Androgen Insensitivity Syndrome:
testicular feminization syndrome, AIS, Androgen receptor deficiency, Testicular feminization, Male pseudohermaphroditism due to androgen insensitivity, Androgen resistance syndrome
Androgen resistance syndrome, Complete androgen insensitivity, Goldberg-Morris syndrome
Source - Diseases Database
Androgen receptor deficiency, Androgen resistance syndrome, Male pseudohermaphroditism due to androgen insensitivity, Testicular feminization, Testicular feminization syndrome (TFS), Androgen receptor deficiency, Androgen resistance syndrome, Male pseudohermaphroditism due to androgen insensitivity, Testicular feminization
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)
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