Bilateral Gonadoblastoma in a 6-Year-old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy.

Frasier syndrome (FS) is a rare condition, caused by splice-site mutations of intron 9 in the Wilms' tumor suppressor gene 1 (WT1 gene). The WT1 protein is essential for urogenital development and patients with 46XY karyotype present with female (FS type 1) or male phenotype, gonadal dysgenesis, progressive glomerulopathy, and high risk of gonadoblastoma. We describe a female patient with an IVS9+4C>T donor splice-site mutation, who underwent a preventive gonadectomy at the age of 6 years due to imaging findings of dysplastic gonads. The biopsy revealed bilateral gonadoblastoma, emphasizing the need for early gonadectomy in 46XY FS patients. Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.

Citation

Konstantinos Kollios, Aristea Karipiadou, Maria Papagianni, Joanne Traeger-Synodinos, Konstantina Kosta, Parthena Savvidou, Stella Stabouli, Emmanuel Roilides. Bilateral Gonadoblastoma in a 6-Year-old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy. Journal of pediatric hematology/oncology. 2022 Nov 01;44(8):471-473

Mesh Tags

PMID: 35700406

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