46,XX testicular disorder of sex development (DSD), also known as XX male syndrome, is a rare condition where an individual with a 46,XX karyotype develops a male phenotype. In 90% of cases, the syndrome results from the translocation of the
SRY
gene to the X chromosome or an autosome. The remaining 10% of individu...
Júlia Martinková, Hana Řezáčová, A. Šantavá et al.· Frontiers in Genetics· 0 citations
The first report of paternal transmission of the pathogenic NM_004959.5(NR5A1):c.614dup p.(Gln206Thrfs*20) variant to an affected son is presented, thereby expanding the understanding of phenotypic mechanisms, paternal inheritance, and reproductive potential in this disorder.
Júlia Martinková, Michaela Mihulová, Miroslava Balaščáková et al.· Frontiers in Pediatrics· 0 citations
A unique AR deletion identified in a 46,XY female patient with CAIS is described, which segregates in the large CAIS family; it was detected in five affected relatives, while the four remaining family members were asymptomatic carriers.
Júlia Martinková, Andrea Gřegořová, M. Wayhelova et al.· Biomedical papers of the Med...· 0 citations
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