Androgen Insensitivity Syndrome (AIS)

Androgen insensitivity syndrome is an X-linked recessive disorder of sexual development (DSD) caused by a variety of inactivating mutations in the gene encoding for the androgen receptor (AR) in 46, XY individuals. It is classified as complete androgen insensitivity (CAIS) and partial androgen insensitivity (PAIS) based on phenotypic expression related to the level of AR dysfunction. The diagnosis of individuals with CAIS should be considered in a girl presenting with primary amenorrhea, scant pubic hair, and absent uterus, or a female infant with bilateral inguinal swelling. The diagnosis of PAIS should be considered in a newborn with ambiguous or atypical genitalia. A multidisciplinary team approach is best for the management of AIS. Multidisciplinary approach recommended, including pediatric/adult endocrinologist, gynecologist, urologist, psychologist, geneticists, neonatologist/medical ethicist, and social services.