Article
Pathology of 46,XY pure gonadal dysgenesis: absence of testis differentiation associated with mutations in the testis-determining factor.
Differentiation; research in biological diversity - 1 Jan 1993
Vilain E, Jaubert F, Fellous M, McElreavey K
Abstract excerpt
Individuals with 46, XY pure gonadal dysgenesis present with a completely female phenotype. These individuals develop bilateral streak gonads and have normal Müllerian structures. The apparent absence of testicular tissue in these individuals suggests a mutation in the initial steps of the male sex-determining pathway. A candidate gene for the primary signal in this pathway was recently cloned (SRY) which encodes...
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