Androgen Insensitivity Syndrome

Excerpt

Androgen insensitivity syndrome (AIS) is a common etiology of sexual developmental disorders resulting in varying phenotypes. These disorders of androgen action present as 46 XY disorders or differences of sex development (DSD). The phenotypic spectrum of AIS depends on the residual androgen receptor activity and encompasses individuals with a completely female phenotype to male phenotype with infertility/undervirilization. Androgen resistance results in complete androgen insensitivity syndrome (CAIS), characterizing XY sex reversal with normal female phenotype, whereas phenotype diversity is variable with residual androgen receptor activity, which leads to partial androgen insensitivity syndrome (PAIS). PAIS presents a substantial challenge to the clinician in determining the gender identity at the time of the birth of the child. Therefore, it is crucial for the clinician to have an understanding of the physiology of the androgen receptors mechanism to diagnose the condition as CAIS or PAIS accurately and plan the treatment course from birth to adulthood.