Copy number variations of several genes involved in the process of gonadal determination have been identified as a cause of 46,XY differences of sex development. We report a non-syndromic 14-year-old
Introduction: The testicular regression syndrome (TRS) is a form of differences of sex development (DSD) in which the testes differentiate and function during early embryonic development, but subseque
Genes differentially expressed between B6-Y B6 and B6-Y POS males. All 515 differentially expressed genes (column 1) either underexpressed or overexpressed (column 3) in B6-Y POS males with correspond
Introduction: The pre-B cell leukemia transcription factor encoded by PBX1 is expressed throughout human embryonic stages. Accumulating cases with differences of sex development (DSDs) have been repor
