Article
A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review.
Pediatric endocrinology reviews : PER - 1 Aug 2020
Lavi Eran, Zighan Mahmud, Abu Libdeh Abdulsalam, Klopstock Tehila, Weinberg-Shukron Ariella, Renbaum Pinchas, Levy-Lahad Ephrat, Zangen David
Abstract excerpt
Frasier syndrome (FS), a rare disease caused by inherited or de novo mutation in Wilm's Tumor suppressor gene 1 (WT1), is characterized by slow progressive nephropathy, XY gonadal dysgenesis (XY-DSD), and increased risk for gonadal tumors. Early childhood (1-6 years) nephropathy progresses with age to refractory nephrotic syndrome, and end-stage renal failure in late adolescence, when delayed puberty and/or...
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