Molecular mechanisms associated with 46,XX disorders of sex development

Ingrid Knarston; Katie Ayers; Andrew Sinclair

doi:10.1042/CS20150579

Molecular mechanisms associated with 46,XX disorders of sex development

Clin Sci (Lond). 2016 Mar;130(6):421-32. doi: 10.1042/CS20150579.

Authors

Ingrid Knarston¹, Katie Ayers², Andrew Sinclair¹

Affiliations

¹ Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria 3052, Australia Department of Paediatrics, University of Melbourne, Melbourne, Victoria 3010, Australia.
² 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.

PMID: 26846580
DOI: 10.1042/CS20150579

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.

Keywords: 46; XX disorders of ovarian development; gonad; ovary; sex determination; sex differentiation; testis.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

46, XX Disorders of Sex Development / genetics*
Animals
Gonads / embryology
Humans