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

par Saylam, Keziban;Simon, Philippe
Référence European journal of obstetrics, gynecology, and reproductive biology, 110, 1, page (111-113)
Publication Publié, 2003-09

Article révisé par les pairs

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Résumé :

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.