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46,xx testicular differences of sex development

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Presence of testes in an individual with a 46,xx karyotype, typically associated with translocation of the sry gene, encoding the transcription factor sex-determining region y protein, from the paternal y chromosome to the paternal x chromosome during gametogenesis (sry-positive). Approximately 15-20% of individuals with 46,xx testicular dsd are sry-negative. These individuals may have other genetic variations affecting testis determination, such as duplication of the sox9 gene, which encodes the transcription factor sox-9.


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