Patel Payal R, Pappas John, Arva Nicoleta C, Franklin Bonita, Brar Preneet Cheema
J Pediatr Endocrinol Metab. 2013;26(9-10):971-4. doi: 10.1515/jpem-2012-0409.
Mutation of the Wilms tumor gene (WT1) is associated with two well-described syndromes called Denys-Drash (DDS) and Frasier (FS). Both are associated with nephropathy and ambiguous genitalia and have overlapping clinical and molecular features. The known risk of Wilms tumor in DDS and gonadoblastoma (GB) in FS patients requires tumor surveillance. The literature reports the occurrence of GB in DDS as lower than FS. This case highlights a very early presentation of bilateral GB in DDS and the consideration of early prophylactic gonadectomy at the time of diagnosis with DDS.
威尔姆斯瘤基因（WT1）突变与两种已被充分描述的综合征相关，即丹尼斯-德拉什综合征（DDS）和弗雷泽综合征（FS）。两者均与肾病和生殖器模糊有关，且具有重叠的临床和分子特征。DDS患者患威尔姆斯瘤以及FS患者患性腺母细胞瘤（GB）的已知风险需要进行肿瘤监测。文献报道DDS中GB的发生率低于FS。本病例突出了DDS中双侧GB的极早期表现以及在诊断DDS时考虑早期预防性性腺切除术。
