Tag: Upstream Deletion
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Upstream SOX9 Deletion and 46,XY Female with Acampomelic Campomelic Dysplasia: Absent Minipuberty
Overview Acampomelic campomelic dysplasia (ACD) is a subtler form of campomelic dysplasia characterized by skeletal anomalies without the classical bowed long bones. It results from haploinsufficiency or regulatory disruptions of the SOX9 gene, a pivotal regulator of chondrogenesis and sex development. In some cases, upstream deletions affecting the regulatory landscape of SOX9 lead to atypical…
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Upstream SOX9 Deletion in a 46,XY Girl with Acampomelic Campomelic Dysplasia and Absent Minipuberty
Overview Campomelic dysplasia (CD) is a rare congenital disorder typically caused by pathogenic variants in SOX9. Classic features include skeletal anomalies, a bowed long bones phenotype (campomelia), and a spectrum of midline defects. In some cases, dysplasia occurs without the typical bowing (acampomelic CD), illustrating the diverse genetic mechanisms that disrupt SOX9 regulation. Recent reports…