46,XX DSD: The masculinised female

Richard J. Auchus, Alice Y. Chang

Research output: Contribution to journalReview articlepeer-review

18 Scopus citations


The 46,XX disorders of sex development (DSDs) cause virilisation or masculinisation of the female foetus. The final common pathway of all 46,XX DSDs is excess dihydrotestosterone (DHT) or potent foreign androgen in the genital tissue during the critical period of sexual differentiation. Whereas the foetal testis is source of androgen in the male, it is the foetal adrenal that produces the DHT precursors in the female. By understanding the principles of human steroid biosynthesis, the pathogenesis of each disorder may be logically deduced, and treatment strategies are rationally constructed. In practice, however, therapies for many of these diseases are fraught with complications and caveats, and current approaches leave much room for improvement. This review discusses these diseases, their pathogenesis and approaches to therapy. We emphasise areas where improved treatments are sorely needed.

Original languageEnglish (US)
Pages (from-to)219-242
Number of pages24
JournalBest Practice and Research: Clinical Endocrinology and Metabolism
Issue number2
StatePublished - Apr 2010


  • 46,XX DSD
  • adrenal gland
  • androgen
  • congenital adrenal hyperplasia
  • steroidogenesis
  • virilisation

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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