Molecular mechanisms associated with 46,XX disorders of sex development

Abstract

In the female gonad, distinct signalling pathways activate ovarian differentiation while repressing the formation of testes. Human disorders of sex development (DSDs), such as 46,XX DSDs, can aris when this signalling is aberrant. Here we review the current understanding of the genetic mechanisms that control gonadal development,with particular emphasis on those that drive or inhibit ovarian differentiation. We discuss how disruption to these molecular pathways can lead to 46,XX disorders of ovarian development. Finally, we look at recently characterized novel genes and pathways that contributeand speculate how advances in technology will aid in further characterization of normal and disrupt..