OMIA 000991-9913 : Androgen insensitivity syndrome (AIS) in Bos taurus

In other species: domestic cat , dog , horse , pig

Possibly relevant human trait(s) and/or gene(s) (MIM number): 300068

Mendelian trait/disorder: yes

Mode of inheritance: X-linked

Considered a defect: yes

Key variant known: no

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.

Reference


1993 Peter, A.T., Scheidt, A.B., Campbell, J.W., Hahn, K.A. :
Male Pseudohermaphroditism of the Testicular Feminization Type in a Heifer Canadian Veterinary Journal - Revue Veterinaire Canadienne 34:304-305, 1993.

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  • Created by Frank Nicholas on 06 Sep 2005