Early recognition of gonadal dysgenesis in congenital nephrotic syndrome

Supamit Ukarapong, Gary Berkovitz, Kenneth McElreavey, Anu Bashamboo, Yong Bao

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Mutation of the Wilms tumor suppressor gene (WT1) has been recognized as one of the etiologies of steroid-resistant nephrotic syndrome (SRNS). The mutation is also responsible for gonadal dysgenesis in 46,XY individuals. Early recognition of the presence of Y chromosome is of particular importance because of the high risk of gonadal tumor. 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.

Original languageEnglish (US)
Pages (from-to)341-344
Number of pages4
JournalClinical Nephrology
Issue number6
StatePublished - 2016


  • Delayed puberty
  • Gonadal dysgenesis
  • Kidney transplant
  • Renal failure
  • WT1

ASJC Scopus subject areas

  • Nephrology


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