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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome.

We report the case of a young woman with primary amenorrhea. In her childhood, she suffered from renal failure requesting kidney transplantation at the age of 11. The investigations for primary amenorrhea revealed a hypergonadotropic hypogonadism associated with 46 XY karyotype. The association of primary amenorrhea with renal failure suggested Frasier syndrome (FS) or Denys-Drash syndrome (DDS). Genetic analysis revealed a Wilms' tumour ( WT1) gene mutation characteristic of the Frasier syndrome. Dysgenetic ovaries were removed laparoscopically due to the risk of gonadal cancer.[1]

References

  1. WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome. Saylam, K., Simon, P. Eur. J. Obstet. Gynecol. Reprod. Biol. (2003) [Pubmed]
 
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