Molecular mechanisms associated with 46,XX disorders of sex development
Ingrid Knarston, Katie Ayers, Andrew Sinclair
Clinical Science | PORTLAND PRESS LTD | Published : 2016
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 disr..View full abstract
Awarded by NHMRC program
Awarded by NHMRC fellowship
I.K. is supported by an Australian Postgraduate Award, University of Melbourne. K.A. and A.S. are supported by a NHMRC program [grant number GNT1074258]. A.S. is also supported by a NHMRC fellowship [grant number GNT1062854].