A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma

Nicholas G. Cost; Aaron T. Ludwig; Duncan T. Wilcox; Dinesh Rakheja; Steven J. Steinberg; Linda A. Baker

doi:10.1016/j.jpedsurg.2008.10.003

A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma

Nicholas G. Cost, Aaron T. Ludwig, Duncan T. Wilcox, Dinesh Rakheja, Steven J. Steinberg, Linda A. Baker

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

6 Scopus citations

Abstract

An 8-year-old phenotypic female with campomelic dysplasia (CD) and 46,XY sex-reversal presented with renal colic. Medullary nephrocalcinosis, urolithiasis, and renal malrotation were diagnosed by computed tomographic scanning. Pelvic sonogram identified an enlarged left gonad. Genetic testing revealed a novel SOX9 heterozygous deletion of a cytosine at nucleotide 972 (972delC), causing a frameshift at codon 200, introducing a stop codon 18 codons further downstream (P200fsX218). At laparoscopic gonadectomy, a left dysgerminoma was removed. This first reported case of dysgerminoma in a sex-reversed patient with CD who also had urolithiasis stresses the importance of prophylactic gonadectomy and urologic evaluations in this susceptible population.

Original language	English (US)
Pages (from-to)	451-454
Number of pages	4
Journal	Journal of pediatric surgery
Volume	44
Issue number	2
DOIs	https://doi.org/10.1016/j.jpedsurg.2008.10.003
State	Published - Feb 2009
Externally published	Yes

Keywords

Campomelic dysplasia
Dysgerminoma
Nephrocalcinosis
Nephrolithiasis
SOX9
Sex-reversal

ASJC Scopus subject areas

Surgery
Pediatrics, Perinatology, and Child Health

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10.1016/j.jpedsurg.2008.10.003

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title = "A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma",

abstract = "An 8-year-old phenotypic female with campomelic dysplasia (CD) and 46,XY sex-reversal presented with renal colic. Medullary nephrocalcinosis, urolithiasis, and renal malrotation were diagnosed by computed tomographic scanning. Pelvic sonogram identified an enlarged left gonad. Genetic testing revealed a novel SOX9 heterozygous deletion of a cytosine at nucleotide 972 (972delC), causing a frameshift at codon 200, introducing a stop codon 18 codons further downstream (P200fsX218). At laparoscopic gonadectomy, a left dysgerminoma was removed. This first reported case of dysgerminoma in a sex-reversed patient with CD who also had urolithiasis stresses the importance of prophylactic gonadectomy and urologic evaluations in this susceptible population.",

keywords = "Campomelic dysplasia, Dysgerminoma, Nephrocalcinosis, Nephrolithiasis, SOX9, Sex-reversal",

author = "Cost, {Nicholas G.} and Ludwig, {Aaron T.} and Wilcox, {Duncan T.} and Dinesh Rakheja and Steinberg, {Steven J.} and Baker, {Linda A.}",

year = "2009",

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language = "English (US)",

volume = "44",

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AU - Cost, Nicholas G.

AU - Ludwig, Aaron T.

AU - Wilcox, Duncan T.

AU - Rakheja, Dinesh

AU - Steinberg, Steven J.

AU - Baker, Linda A.

PY - 2009/2

Y1 - 2009/2

N2 - An 8-year-old phenotypic female with campomelic dysplasia (CD) and 46,XY sex-reversal presented with renal colic. Medullary nephrocalcinosis, urolithiasis, and renal malrotation were diagnosed by computed tomographic scanning. Pelvic sonogram identified an enlarged left gonad. Genetic testing revealed a novel SOX9 heterozygous deletion of a cytosine at nucleotide 972 (972delC), causing a frameshift at codon 200, introducing a stop codon 18 codons further downstream (P200fsX218). At laparoscopic gonadectomy, a left dysgerminoma was removed. This first reported case of dysgerminoma in a sex-reversed patient with CD who also had urolithiasis stresses the importance of prophylactic gonadectomy and urologic evaluations in this susceptible population.

AB - An 8-year-old phenotypic female with campomelic dysplasia (CD) and 46,XY sex-reversal presented with renal colic. Medullary nephrocalcinosis, urolithiasis, and renal malrotation were diagnosed by computed tomographic scanning. Pelvic sonogram identified an enlarged left gonad. Genetic testing revealed a novel SOX9 heterozygous deletion of a cytosine at nucleotide 972 (972delC), causing a frameshift at codon 200, introducing a stop codon 18 codons further downstream (P200fsX218). At laparoscopic gonadectomy, a left dysgerminoma was removed. This first reported case of dysgerminoma in a sex-reversed patient with CD who also had urolithiasis stresses the importance of prophylactic gonadectomy and urologic evaluations in this susceptible population.

KW - Campomelic dysplasia

KW - Dysgerminoma

KW - Nephrocalcinosis

KW - Nephrolithiasis

KW - SOX9

KW - Sex-reversal

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ER -

A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma

Abstract

Keywords

ASJC Scopus subject areas

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