OMIA 000991 : Androgen insensitivity syndrome (AIS)

Possible human homologue (MIM number): 300068

Cross-species summary: Previously known as Testicular Feminisation Syndrome. Following the recommendations on nomenclature for disorders of sexual development (DSD) proposed by Lee et al. (Pediatrics 2006;118;e488; DOI: 10.1542/peds.2006-0738), this disorder is now classified as a type of XY DSD. This is an abnormality of sexual development in which affected individuals have an XY chromosomal constitution, undescended testes and female secondary sexual characteristics (including female external genitalia). Also, instead of normally developed Mullerian duct derivatives (Fallopian tubes, uterus, cervix, and upper protion of the vagina), they have under-developed Wolffian duct derivatives (epididymis, vas deferens, and seminal vesicle). In all species so far investigated, the inheritance is X-linked recessive. In humans and mice, this disorder is known to be due to a deficiency of an androgen receptor encoded by a gene on the X chromosome. The presence of a Y chromosome induces the undifferentiated embryonic gonads to develop as testes, but, in the absence of androgen receptor, the androgens produced by the testes cannot exert any effect. The result is that the embryo follows the "default" path of development, which is female.

Species in which this phene is found:
dog (Canis lupus familiaris)
domestic cat (Felis catus)
horse (Equus caballus)
pig (Sus scrofa)
cattle (Bos taurus)

Edit History


  • Created by Frank Nicholas on 03 May 2005
  • Changed by Frank Nicholas on 04 Jul 2012
  • Changed by Frank Nicholas on 07 Aug 2017