Early recognition of gonadal dysgenesis in congenital nephrotic syndrome

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

doi:10.5414/CN108925

Early recognition of gonadal dysgenesis in congenital nephrotic syndrome

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

Pediatrics

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	341-344
Number of pages	4
Journal	Clinical Nephrology
Volume	86
Issue number	6
DOIs	https://doi.org/10.5414/CN108925
State	Published - 2016

Keywords

Delayed puberty
Gonadal dysgenesis
Kidney transplant
Renal failure
WT1

ASJC Scopus subject areas

Nephrology

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title = "Early recognition of gonadal dysgenesis in congenital nephrotic syndrome",

abstract = "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.",

keywords = "Delayed puberty, Gonadal dysgenesis, Kidney transplant, Renal failure, WT1",

author = "Supamit Ukarapong and Gary Berkovitz and Kenneth McElreavey and Anu Bashamboo and Yong Bao",

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AU - Ukarapong, Supamit

AU - Berkovitz, Gary

AU - McElreavey, Kenneth

AU - Bashamboo, Anu

AU - Bao, Yong

PY - 2016

Y1 - 2016

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Early recognition of gonadal dysgenesis in congenital nephrotic syndrome

Abstract

Keywords

ASJC Scopus subject areas

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