TY - JOUR
T1 - Reprint of “Steroid 5α-reductase 2 deficiency”
AU - Mendonca, Berenice B.
AU - Batista, Rafael Loch
AU - Domenice, Sorahia
AU - Costa, Elaine M.F.
AU - Arnhold, Ivo J.P.
AU - Russell, David W.
AU - Wilson, Jean D.
N1 - Funding Information:
The work was supported by Grant number 2013/02162-8 from The Sao Paulo Research Foundation and CNPQ Grant number 305743/2011 -to B.B.M. The work was partially supported by grants from Fundação de Amparo a Pesquisa do estado de Sao Paulo FAPESP 2013/02162-8.
Funding Information:
The work was supported by Grant number 2013/02162-8 from The Sao Paulo Research Foundation and CNPQ Grant number 305743/2011-to B.B.M. The work was partially supported by grants from Funda??o de Amparo a Pesquisa do estado de Sao Paulo FAPESP2013/02162-8.
Publisher Copyright:
© 2016
PY - 2017/1
Y1 - 2017/1
N2 - 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.
AB - 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.
KW - Ambiguous genitalia
KW - Androgen action
KW - Dihydrotestosterone
KW - Disorders of sexual differentiation (DSD)
KW - Gender identity/behavior
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U2 - 10.1016/j.jsbmb.2016.11.006
DO - 10.1016/j.jsbmb.2016.11.006
M3 - Review article
C2 - 27842977
AN - SCOPUS:85032796431
SN - 0960-0760
VL - 165
SP - 95
EP - 100
JO - Journal of Steroid Biochemistry and Molecular Biology
JF - Journal of Steroid Biochemistry and Molecular Biology
ER -