Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan.
Campomelic dysplasia (CD) is a rare autosomal dominant skeletal malformation with or without sex reversal. About 10% of cases that present with milder skeletal features are referred to as acampomelic campomelic dysplasia (ACD). CD and ACD are caused by mutations in SOX9. We report a patient of homozygous SOX9 deletion with minimal skeletal anomaly and female external genitalia in the presence of a male karyotype. The mechanisms explaining the homozygous deletion include a de novo mutation followed by gene conversion, uniparental disomy, or somatic crossing over. Our report highlights the possibility of ACD in XY sex-reversed patients with minimal skeletal presentation.
Written by:
Chen SY, Lin SJ, Tsai LP, Chou YY. Are you the author?
Reference: Urology. 2011 Sep 30. Epub ahead of print.
doi: 10.1016/j.urology.2011.07.1402
PubMed Abstract
PMID: 21962881
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