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 journalArticlepeer-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 languageEnglish (US)
Pages (from-to)451-454
Number of pages4
JournalJournal of Pediatric Surgery
Volume44
Issue number2
DOIs
StatePublished - Feb 1 2009

Keywords

  • Campomelic dysplasia
  • Dysgerminoma
  • Nephrocalcinosis
  • Nephrolithiasis
  • SOX9
  • Sex-reversal

ASJC Scopus subject areas

  • Surgery
  • Pediatrics, Perinatology, and Child Health

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