1/2. Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with frasier syndrome.frasier syndrome is characterized by slowly progressive nephropathy, male pseudohermaphroditism, streak gonad, and high risk of gonadoblastoma development. Here we report a case of a 46,XY phenotypic female with frasier syndrome, who was under hemodialysis. While her serum estradiol level was gradually increasing annually, gonadotropin level was constantly extremely high, and her appearance was still prepubertal. She was heterozygous for a novel guanine>adenine point mutation at position 1 of the splice donor site within intron 9 (IVS 9 1G>A) of the Wilms' tumor 1 gene. The possibility of this disease should be taken into consideration whenever we encounter a patient with steroid-resistant nephrotic syndrome and delayed puberty.- - - - - - - - - - ranking = 1keywords = gonadoblastoma (Clic here for more details about this article) |
2/2. Prophylactic bilateral salpingo-oopherectomy in a 17-year-old with frasier syndrome reveals gonadoblastoma and seminoma: a case report.Mutations in the Wilms' tumor gene are present in children with frasier syndrome, denys-drash syndrome, wagr syndrome, and some cases of Wilms' tumor. The Wilms' tumor gene product, WT1, is necessary for normal urogenital development. Frasier syndrome is an association between focal segmental glomerulosclerosis, beginning in the second and third decade, male to female sex reversal, and dysgenetic gonads. We report a case of frasier syndrome in a 17-year-old adolescent girl with renal failure, kidney transplant, and dysgenetic gonads, with development of gonadoblastoma and dysgerminoma (seminoma). The diagnosis of frasier syndrome was based on nephrotic syndrome with diffuse mesangial sclerosis leading to chronic renal failure, dysgenetic gonads, 46 XY karyotype in a phenotypic female, and a mutation in the Wilms' tumor gene. Prophylactic laparoscopic bilateral salpingo-oopherectomy revealed gonadoblastoma and seminoma in opposite atrophic ovaries as well as a hypoplastic uterus. Early prophylactic resection of dysgenetic gonads is indicated in children with frasier syndrome to prevent the development of germ cell malignancy.- - - - - - - - - - ranking = 6keywords = gonadoblastoma (Clic here for more details about this article) |