Swyer syndrome

(redirected from XY Female)

Swyer syndrome

(swī'ĕr),
gonadal dysgenesis in phenotypic females with XY genotype.

Swyer syndrome

(swī'ĕr),
gonadal dysgenesis in phenotypic females with XY genotype.

Swyer syndrome

A condition (OMIM:400044) characterised by male-to-female sex reversal in the presence of a normal 46,XY karyotype. The (male) gonads undergo rapid and early degeneration, which appear in the adult as “streak gonads” consisting mainly of fibrous tissue and ovarian stroma; the patients do not develop secondary sexual characteristics at puberty. Their external genitalia is completely female, and Müllerian structures are normal.

Molecular pathology
Defects of SRY, which encodes testis-determining factor, cause Swyer syndrome.

Swy·er syn·drome

(swī'ĕr sin'drōm)
Gonadal dysgenesis in phenotypic females with XY genotype.
References in periodicals archive ?
An XY female is phenotypically more normal that a female with Turner's syndrome (XO).
This mutation was found in an XY female and is the mutation that identified SRY as the gene determining maleness.
embryos can act together to successfully maintain this exceptional condition in natural populations of Akodon azarae by enhancing the chances of implantation of XY female embryos.
Aberrant chromosomal sexdetermining mechanisms in mammals, with special reference to species with XY females.
Furthermore, in the same issue of NATURE, a team of researchers led by John Gubbay of the MRC National Institute for Medical Research in London describe experiments showing that XY female mice lack the mouse version of SRY.
Using dozens of DNA probes that attach to specific genetic sequences, the scientists compared the structures of Y chromosomes from an XX male and an XY female.
In addition to these conditions, there are also individuals with a female appearance who have a DSD with male sex chromosomes, the so-called XY females.
In cases where XY females were identified using GH5 and GH6, a second Y-chromosomal DNA marker, OtY1, confirmed that these individuals were indeed genetic males.
Usually, XY females don't reproduce well, if at all.
The importance of XY females lies in the fact that, in theory, their progeny would be composed of 75% males, of which 50% would possess an XY genotype, while the other 25% an YY genotype (Vera-Cruz et al.