Steroid 5α-reductase 2 deficiency

Berenice B. Mendonca, Rafael Loch Batista, Sorahia Domenice, Elaine M F Costa, Ivo J P Arnhold, David W. Russell, Jean D. Wilson

Research output: Contribution to journalArticle

35 Scopus citations


Dihydrotestosterone is a potent androgen metabolite formed from testosterone by action of 5α-reductase isoenzymes. Mutations in the type 2 isoenzyme cause a disorder of 46,XY sex development, termed 5α-reductase type 2 deficiency and that was described forty years ago. Many mutations in the encoding gene have been reported in different ethnic groups. In affected 46,XY individuals, female external genitalia are common, but Mullerian ducts regress, and the internal urogenital tract is male. Most affected males are raised as females, but virilization occurs at puberty, and male social sex develops thereafter with high frequency. Fertility can be achieved in some affected males with assisted reproduction techniques, and adults with male social sex report a more satisfactory sex life and quality of life as compared to affected individuals with female social sex.

Original languageEnglish (US)
JournalJournal of Steroid Biochemistry and Molecular Biology
StateAccepted/In press - Mar 16 2016


  • Ambiguous genitalia
  • Androgen action
  • Dihydrotestosterone
  • Disorders of sexual differentiation (DSD)
  • Gender identity/behavior

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Endocrinology
  • Cell Biology
  • Molecular Biology
  • Endocrinology, Diabetes and Metabolism
  • Molecular Medicine

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  • Cite this

    Mendonca, B. B., Batista, R. L., Domenice, S., Costa, E. M. F., Arnhold, I. J. P., Russell, D. W., & Wilson, J. D. (Accepted/In press). Steroid 5α-reductase 2 deficiency. Journal of Steroid Biochemistry and Molecular Biology.