Mendonca Berenice B, Batista Rafael Loch, Domenice Sorahia, Costa Elaine M F, Arnhold Ivo J P, Russell David W, Wilson Jean D
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.
J Steroid Biochem Mol Biol. 2016 Oct;163:206-11. doi: 10.1016/j.jsbmb.2016.05.020. Epub 2016 May 22.
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.
双氢睾酮是一种强效雄激素代谢产物，由睾酮经5α-还原酶同工酶作用形成。2型同工酶的突变会导致46,XY性发育障碍，称为2型5α-还原酶缺乏症，该病于40年前被描述。不同种族群体中已报道了编码基因的许多突变。在受影响的46,XY个体中，女性外生殖器很常见，但苗勒管退化，内泌尿生殖道为男性。大多数受影响的男性自幼被当作女性抚养，但在青春期会出现男性化，此后男性社会性别发展的频率较高。一些受影响的男性通过辅助生殖技术可以实现生育，与具有女性社会性别的受影响个体相比，具有男性社会性别的成年人报告的性生活和生活质量更令人满意。
