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MeSH Review:

Gonadal Dysgenesis, 46,XY

Iliopoulos, D. et al., Behzadian, M.A. et al., Rivera, H. et al., Battiloro, E. et al., Kent, A. et al.

Iliopoulos, Volakakis, Tsiga, Rousso, Voyiatzis,

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Disease relevance of Gonadal Dysgenesis, 46,XY

The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome) [1].

High impact information on Gonadal Dysgenesis, 46,XY

A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome [2].
46,XY sex-reversal (Swyer syndrome) and congenital diaphragmatic hernia [3].
A 24-year-old female with a Swyer syndrome phenotype was found to have a 46,X,del (Y) (p11) karyotype [4].

Gene context of Gonadal Dysgenesis, 46,XY

The molecular basis of Swyer syndrome is still unknown, although the presence of mutations in testicular organizing genes downstream of SRY is still to rule out [5].

References

The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome). Behzadian, M.A., Tho, S.P., McDonough, P.G. Am. J. Obstet. Gynecol. (1991) [Pubmed]
A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome. Battiloro, E., Angeletti, B., Tozzi, M.C., Bruni, L., Tondini, S., Vignetti, P., Verna, R., D'Ambrosio, E. Hum. Genet. (1997) [Pubmed]
46,XY sex-reversal (Swyer syndrome) and congenital diaphragmatic hernia. Kent, A., Simpson, E., Ellwood, D., Silink, M. Am. J. Med. Genet. A (2004) [Pubmed]
A further 46,XYp- female. Rivera, H., Moller, M., Baltazar, L.M., Escalante-Herrera, A., Garcia-Cruz, D. Ann. Genet. (1988) [Pubmed]
Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome). Iliopoulos, D., Volakakis, N., Tsiga, A., Rousso, I., Voyiatzis, N. Ann. Genet. (2004) [Pubmed]

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