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impe0096p140 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | IMPE2023

The first familial case of the WT1 Zinc Finger domain 4 pathogenic variant

Gisela Yogi Analia , Kirino Shizuka , Adachi Eriko , Gau Maki , Nakatani Hisae , Iemura Ryosei , Haruki Yamano , Mori Takayasu , Sohara Eisei , Uchida Shinichi , Takasawa Kei , Morio Tomohiro , Kashimada Kenichi

Background: Wilms Tumor 1 gene (WT1) is essential for gonadal development and testicular development. Pathogenic variants in its 1-3rd Zinc Finger (ZF) domains are one of the major causes of 46, XY disorders of sex development (DSD). Interestingly, the variants located on the 4th ZF were recently described to cause the reversed phenotype, 46, XX DSD. Due to its clinical phenotype, i.e., 46, XX testicular DSD, all reported nine patients we...

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The first familial case of the WT1 Zinc Finger domain 4 pathogenic variant

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