Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan.
Urology. 2012 Apr;79(4):908-11. doi: 10.1016/j.urology.2011.07.1402. Epub 2011 Oct 2.
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.
短肢型-中胚层发育不良（CD）是一种罕见的常染色体显性骨骼畸形，可伴有或不伴有性别反转。约 10% 表现为较轻骨骼特征的病例被称为短肢型短肢型-中胚层发育不良（ACD）。CD 和 ACD 是由 SOX9 基因突变引起的。我们报告了一名患者存在纯合性 SOX9 缺失，表现为轻微的骨骼异常和男性核型的女性外生殖器。解释纯合性缺失的机制包括新发生的突变后基因转换、单亲二倍体或体细胞交叉。我们的报告强调了 XY 性反转患者中存在轻微骨骼表现的 ACD 的可能性。
