/androgen insensitivity syndrome

androgen insensitivity syndrome

Rare Disease

MONDO:0019154

Also Known As

AISGoldberg - Maxwell syndromeGoldberg-Maxwell syndromeMorris syndromeandrogen insensitivity syndromeandrogen insensitivity, X-linked recessiveandrogen resistance syndromeandrogen-insensitivity syndrometesticular feminizationtesticular feminization syndromeAR deficiencyDHTR deficiencyFeminisation - testicularandrogen receptor deficiencydihydrotestosterone receptor deficiencytesticular feminization syndrome (formerly)

Definition

Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).