title: Reprint of "Steroid 5α-reductase 2 deficiency".
abstract: 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.
authors.affiliation: Developmental Endocrinology Unit, Hormone and Molecular Genetics Laboratory (LIM/42), Endocrinology Division, Internal Medicine Department, Medical School, University of São Paulo, Brazil. Electronic address: beremen@usp.br.
authors.forename: Berenice B
authors.initials: BB
authors.lastname: Mendonca
authors.affiliation: Developmental Endocrinology Unit, Hormone and Molecular Genetics Laboratory (LIM/42), Endocrinology Division, Internal Medicine Department, Medical School, University of São Paulo, Brazil.
authors.forename: Rafael Loch
authors.initials: RL
authors.lastname: Batista
authors.affiliation: Developmental Endocrinology Unit, Hormone and Molecular Genetics Laboratory (LIM/42), Endocrinology Division, Internal Medicine Department, Medical School, University of São Paulo, Brazil.
authors.forename: Sorahia
authors.initials: S
authors.lastname: Domenice
authors.affiliation: Developmental Endocrinology Unit, Hormone and Molecular Genetics Laboratory (LIM/42), Endocrinology Division, Internal Medicine Department, Medical School, University of São Paulo, Brazil.
authors.forename: Elaine M F
authors.initials: EM
authors.lastname: Costa
authors.affiliation: Developmental Endocrinology Unit, Hormone and Molecular Genetics Laboratory (LIM/42), Endocrinology Division, Internal Medicine Department, Medical School, University of São Paulo, Brazil.
authors.forename: Ivo J P
authors.initials: IJ
authors.lastname: Arnhold
authors.affiliation: Department of Molecular Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390-8857, USA.
authors.forename: David W
authors.initials: DW
authors.lastname: Russell
authors.affiliation: Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390-8857, USA.
authors.forename: Jean D
authors.initials: JD
authors.lastname: Wilson
keywords: Ambiguous genitalia; Androgen action; Dihydrotestosterone; Disorders of sexual differentiation (DSD); Gender identity/behavior