Human sex reversal loci

R Sreenivasan, V Harley

Research output: Chapter in Book/Report/Conference proceedingEncyclopaedia / Dictionary EntryOtherpeer-review

1 Citation (Scopus)


Human sex reversal is a condition where the genetic sex of patients is inconsistent with their phenotypic sex. It is classified as a disorder of sex development (DSD) and can occur when the complex molecular pathways that control sex determination and gonad differentiation are disrupted. Genome analyses of DSD patients have led to the recent identification of a number of loci and, together with gain-of-function and loss-of-function studies in mouse models, have defined their roles in the control of gonadal development. This article summarizes the genetic loci that have been linked to DSDs where sex reversal of varying degrees has been observed.

Original languageEnglish
Title of host publicationBrenner’s Encyclopedia of Genetics
Subtitle of host publicationSecond Edition
EditorsStanley Maloy, Kelly Hughes
Place of PublicationLondon UK
Number of pages4
ISBN (Electronic)9780080961569
ISBN (Print)9780123749840
Publication statusPublished - 27 Feb 2013
Externally publishedYes


  • Ambiguous genitalia
  • Disorder of sex development
  • Gonadal dysgenesis
  • Sex reversal

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