Kollios Konstantinos, Karipiadou Aristea, Papagianni Maria, Traeger-Synodinos Joanne, Kosta Konstantina, Savvidou Parthena, Stabouli Stella, Roilides Emmanuel
Third Department of Pediatrics.
Laboratory of Medical Genetics, School of Medicine, National and Kapodistrian University of Athens, Agia Sophia Children's Hospital, Athens, Greece.
J Pediatr Hematol Oncol. 2022 Nov 1;44(8):471-473. doi: 10.1097/MPH.0000000000002501. Epub 2022 Jun 8.
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.
弗雷泽综合征（FS）是一种罕见疾病，由肾母细胞瘤抑制基因1（WT1基因）第9内含子的剪接位点突变引起。WT1蛋白对泌尿生殖系统发育至关重要，46XY核型的患者表现为女性（FS 1型）或男性表型、性腺发育不全、进行性肾小球病以及发生性腺母细胞瘤的高风险。我们描述了一名患有IVS9+4C>T供体剪接位点突变的女性患者，该患者因性腺发育异常的影像学表现于6岁时接受了预防性性腺切除术。活检显示双侧性腺母细胞瘤，强调了46XY FS患者早期性腺切除术的必要性。
