A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma.
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.
Cost
Nicholas G
NG
Department of Urology, University of Texas-Southwestern Medical Center and Children's Medical Center at Dallas, Dallas, TX 75390-9110, USA. nicholas.cost@sbcglobal.net
Ludwig
Aaron T
AT
Wilcox
Duncan T
DT
Rakheja
Dinesh
D
Steinberg
Steven J
SJ
Baker
Linda A
LA
D002114:Calcinosis / Q000235:genetics*; D055036:Campomelic Dysplasia / Q000235:genetics*; D002648:Child; D004407:Dysgerminoma / Q000235:genetics*; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics*; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*; D055758:SOX9 Transcription Factor / Q000235:genetics*; D052878:Urolithiasis / Q000235:genetics*
D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human