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 arise 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 contribute and speculate how advances in technology will aid in further characterization of normal and disrupted human ovarian development.
Review Article| February 04 2016
Molecular mechanisms associated with 46,XX disorders of sex development
*Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria 3052, Australia
†Department of Paediatrics, University of Melbourne, Melbourne, Victoria 3010, Australia
Correspondence: Dr Katie Ayers (email firstname.lastname@example.org).
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Ingrid Knarston, Katie Ayers, Andrew Sinclair; Molecular mechanisms associated with 46,XX disorders of sex development. Clin Sci (Lond) 1 March 2016; 130 (6): 421–432. doi: https://doi.org/10.1042/CS20150579
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