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Androgen Insensitivity Syndrome

Androgen insensitivity syndrome (AIS) occurs when a person who carries the genetic code for male (one X chromosome and one Y chromosome) appears to be female. This entry covers the following: a brief description of the clinical features of the syndrome, diagnosing and testing, management and treatment, detecting carriers, genetic counseling to identify carriers, gender assignment issues, AIS in adulthood, and self-help groups and other resources.

Clinical Features

The clinical manifestations of AIS can be broadly divided into three groups, assumed to be the result of the degree of androgen insensitivity—that is, responsiveness to male hormones. Complete androgen insensitivity syndrome (CAIS) is when the individual with XY chromosome combination appears with typical female external genitalia. Partial androgen insensitivity syndrome (PAIS) involves predominantly female, predominantly male, or ambiguous ...

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