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

Department of Urology, University of Texas-Southwestern Medical Center and Children's Medical Center at Dallas, Dallas, TX 75390-9110, USA.
Journal of Pediatric Surgery (Impact Factor: 1.31). 03/2009; 44(2):451-4. DOI: 10.1016/j.jpedsurg.2008.10.003
Source: PubMed

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.

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