Androgen insensitivity syndrome

Also known as: AIS; Morris syndrome; testicular feminization syndrome

X-linked disorder of sex development with end-organ resistance to androgens in 46,XY individuals.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Reproductive endocrinology
Sex & age distribution: Male: affected (46,XY); Female: carriers; phenotypic females with complete form; Children: yes, presents as inguinal hernia in infancy or primary amenorrhea at puberty
Gene(s) involved: AR

Etiology & mechanism

Loss of androgen receptor function prevents virilization.

Gene(s) involved (1)

Symptoms & signs (8)

absent uterusambiguous genitalia (partial form)breast development at pubertyfemale external genitalia (complete form)infertilityprimary amenorrheascant pubic and axillary hairundescended testes

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.