ESPE Abstracts

ESPE Abstracts

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hrp0098p1-92 | Sex Endocrinology and Gonads 1 | ESPE2024

Phenotypic spectrum of WT1 gene variants in DSD

Celeste Mattone María , Turizo Carmen , Pérez Garrido Natalia , Gil Silvia , Cesar Ramírez Pablo , Roxana Marino , Laura Galluzzo Mutti María , Belgorosky Alicia , Ciaccio Marta , Berensztein Esperanza , Guercio Gabriela , Costanzo Mariana

Background: Wilms' Tumor Suppressor Gene 1 (WT1) plays an essential role in urogenital and kidney development. Germline variants in WT1 are associated with life-threatening glomerulopathy, disorders of gonadal development in both 46,XY and 46,XX individuals, Wilms tumor, and gonadal malignancies. Phenotypic overlap among 46,XY affected subjects has been frequently observed and there is still scarce information regarding renal involvement...
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ESPE Abstracts

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