期刊
SEXUAL DEVELOPMENT
卷 4, 期 6, 页码 321-325出版社
KARGER
DOI: 10.1159/000320142
关键词
Sex reversal; SOX9; SRY; Swyer syndrome; TES; TESCO; Testis-specific enhancer; XY gonadal dysgenesis
资金
- Deutsche Forschungsgemeinschaft [Sche 194/5-4, GRK 1104]
- National Health and Medical Research Council (Australia) [546517]
During mouse sex determination, SRY upregulates the core testis-specific enhancer of Sox9, TESCO. Mutations in human SRY are found in one third of cases with XY pure gonadal dysgenesis (XY GD; Swyer syndrome), while two thirds remain unexplained. Heterozygous SOX9 mutations can cause XY GD in association with the skeletal malformation syndrome campomelic dysplasia. We hypothesized that human TESCO mutations could cause isolated XY GD. Sixty-six XY GD cases with an intact SRY were analyzed for TESCO point mutations or deletions. No mutations were identified. We conclude that TESCO mutations are not a common cause of XY GD. Copyright (C) 2010 S. Karger AG, Basel
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