Steroid 5α-Reductase 2 Deficiency.

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.

The Journal of steroid biochemistry and molecular biology. 2016 May 22 [Epub ahead of print]

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

Developmental Endocrinology Unit, Hormone and Molecular Genetics Laboratory (LIM/42), Endocrinology Division, Internal Medicine Department, Medical School, University of São Paulo, Brazil. Electronic address: ., Developmental Endocrinology Unit, Hormone and Molecular Genetics Laboratory (LIM/42), Endocrinology Division, Internal Medicine Department, Medical School, University of São Paulo, Brazil., Developmental Endocrinology Unit, Hormone and Molecular Genetics Laboratory (LIM/42), Endocrinology Division, Internal Medicine Department, Medical School, University of São Paulo, Brazil., Developmental Endocrinology Unit, Hormone and Molecular Genetics Laboratory (LIM/42), Endocrinology Division, Internal Medicine Department, Medical School, University of São Paulo, Brazil., Developmental Endocrinology Unit, Hormone and Molecular Genetics Laboratory (LIM/42), Endocrinology Division, Internal Medicine Department, Medical School, University of São Paulo, Brazil., Department of Molecular Genetics Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas TX 75390-8857 USA., Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas TX 75390-8857 USA.

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