Early recognition of gonadal dysgenesis in congenital nephrotic syndrome 
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We present here three cases of steroid-resistant nephrotic syndrome with WT1 mutation and 46,XY karyotype. Patient 1 and 2 have intron splice site (IVS9+5G > A) mutation. Patient 3 has c.1301G>A (p. R434H) mutation. All cases had normal female external genitalia at birth and eluded the diagnosis of gonadal dysgenesis until later in life. We suggest that chromosomal analysis should be promptly performed in female patients with early-onset steroid-resistant nephrotic syndrome.
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PMID: 27719739 [PubMed - as supplied by publisher]

Source: Clinical Nephrology - October 9, 2016 Category: Urology & Nephrology Authors: Ukarapong S, Berkovitz G, McElreavey K, Bashamboo A, Bao Y Tags: Clin Nephrol Source Type: research