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.
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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
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