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

ArticleinJournal of Pediatric Surgery 44(2):451-4 · March 2009with14 Reads
Impact Factor: 1.39 · DOI: 10.1016/j.jpedsurg.2008.10.003 · Source: PubMed


    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.