Abstract
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.
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