SPR Unknown # 86 -- FINAL
spr unknown 86
Publication Date: 2013-04-12
16 year old with primary amenorrhea
Androgen insensitivity syndrome (a.k.a. testicular feminization)
Androgen insensitivity syndrome (AIS), formerly known as testicular feminization, is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals due to an abnormality of androgen receptors. Two types exist, depending on the amount of residual receptor function: 1) complete androgen insensitivity syndrome (CAIS); 2) partial androgen insensitivity syndrome (PAIS).
All individuals with AIS have male (46,XY) karyotypes. Individuals with complete androgen insensitivity syndrome have female external genitalia with normal labia, clitoris, and vaginal introitus. The phenotype of individuals with partial androgen insensitivity syndrome ranges from mildly virilized female external genitalia (clitorimegaly without other external anomalies) to mildly undervirilized male external genitalia (hypospadias and/or small phallus).