[Pure 46,XY gonadal dysgenesis].

Abstract excerpt

The authors report a rare case of pure 46,XY gonadal dysgenesis (Swyer syndrome). Swyer syndrome is associated with 46,XY karyotype, primary amenorrhea as well as the presence of female internal genital tract and bilateral streak gonads in a phenotypic female. The genetic background of this syndrome includes mutations of several genes involved in the testis differentiation cascade. Mutation of the SRY gene...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Puberty
• Share to Steroidogenic Factor 1
• Share to Amenorrhea