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- W2776551062 abstract "46,XY-disorder of sex development occur due to structural rearrangements of sex chromosomes, mutations, deletions, duplications of X-linked and autosomal genes. A variant of nonsyndromic 46,XY-gonadal dysgenesis can be caused by a mutation in the WT1 gene, the clinical signs of which in patients with a female phenotype and male chromosome sex are primary amenorrhea and / or nephrotic syndrome. Patients with 46,XY-gonadal dysgenesis, caused by a mutation in the WT1 gene, need medical support for a multidisciplinary team (determining the optimal timing of gonadectomy, hormone replacement therapy, psycho-social adaptation, preclinical diagnosis of the probable development of nephroblastoma or nephrotic syndrome)." @default.
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- W2776551062 date "2017-11-27" @default.
- W2776551062 modified "2023-10-15" @default.
- W2776551062 title "46,XY-disorder of sex development due to a mutation in the WT1 gene" @default.
- W2776551062 doi "https://doi.org/10.24026/1818-1384.4(60).2017.118775" @default.
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