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 ?
The main differential diagnoses of this XY female with normal male testosterone concentration at puberty were CAIS, PAIS, or 5ARD.
An XY female is phenotypically more normal that a female with Turner's syndrome (XO).
In this scenario, self-synapsis of sex chromosomes, unaltered ovulation rate, and the accelerated preimplantation development of X[Y.sup.*] 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.
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. They found a small portion that "is necessary and sufficient" to induce testis formation: If present, the individual is male; if absent, female.
One viable alternative for optimizing the production of XY females is feminization through the combination of a low concentration of estrogens (to avoid the observed reduction in survival and growth) and a cold-water temperature during early days of the fry period.
Background: In human, SRY (sex-determining region of the Y chromosome) is the major gene for the testis-determining factor which is found in normal XY males and in the rare XX males, and it is absent in normal XX females and many XY females. There are several methods which can indicate a male genotype by the presence of the amplified product of SRY gene.
Berkovitz, "Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis," The American Journal of Human Genetics, vol.
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. (1,6) These individuals have apparently normal male chromosomes, but develop to adulthood as women.
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.