Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study

@article{Soardi2010CompleteXG,
  title={Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study},
  author={Fernanda Caroline Soardi and Fernanda Borchers Coeli and Andr{\'e}a Trevas Maciel-Guerra and Gil Guerra-J{\'u}nior and Maricilda Palandi de Mello},
  journal={Journal of Applied Genetics},
  year={2010},
  volume={51},
  pages={223-224}
}
TheSRY gene (sex-determining region on the Y chromosome; MIM *480000) is responsible for initiating male gonadal development. However, only 15–20% of the cases of XY gonadal dysgenesis are due to mutations in its sequence. Recently, heterozygous mutations in theNR5A1 gene (nuclear receptor subfamily 5, group A, member 1; MIM +184757) have been described in association with ovarian failure and disorders of testis development with or without adrenal failure. Here we describe a case of XY complete… CONTINUE READING
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