title: 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 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.
authors: Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria 3052, Australia Department of Paediatrics, University of Melbourne, Melbourne, Victoria 3010, Australia.
authors: Ingrid
authors: I
authors: Knarston
authors: Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria 3052, Australia Department of Paediatrics, University of Melbourne, Melbourne, Victoria 3010, Australia katie.ayers@mcri.edu.au.
authors: Katie
authors: K
authors: Ayers
authors: Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria 3052, Australia Department of Paediatrics, University of Melbourne, Melbourne, Victoria 3010, Australia.
authors: Andrew
authors: A
authors: Sinclair
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000235:genetics*; D000818:Animals; D006066:Gonads / Q000196:embryology; D006801:Humans
keywords: 46; XX disorders of ovarian development; gonad; ovary; sex determination; sex differentiation; testis