A rare case of 46, XX SRY-negative male with a similar to 74-kb duplication in a region upstream of SOX9

作者：Xiao, Bing; Ji, Xing; Xing, Ya; Chen, Ying wei; Tao, Jiong^*

来源：European Journal of Medical Genetics, 2013, 56(12): 695-698.

DOI：10.1016/j.ejmg.2013.10.001

• 46, XX male
• Disorder of sex development
• SOX9
• SRY-negative

The 46, XX male disorder of sex development (DSD) is a rare genetic condition. Here, we report the case of a 46, XX SRY-negativemalewith complete masculinization. The coding region and exon/intron boundaries of the DAX1, SOX9 and RSPO1 genes were sequenced, and no mutations were detected. Using whole genome array analysis and real-time PCR, we identified a similar to 74-kb duplication in a region similar to 510-584 kb upstream of SOX9 (chr17:69,533,305-69,606,825, hg19). Combined with the results of previous studies, the minimum critical region associated with gonadal development is a 67-kb region located 584-517 kb upstream of SOX9. The amplification of this region might lead to SOX9 overexpression, causing female-to-male sex reversal. Gonadal-specific enhancers in the region upstream of SOX9 may activate the SOX9 expression through long-range regulation, thus triggering testicular differentiation.

• 出版日期2013-12
• 单位上海交通大学