Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development

Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development

The steroid 5α-reductase type II enzyme catalyzes the conversion of testosterone (T) to dihydrotestosterone (DHT), and its deficiency leads to undervirilization in 46,XY individuals, due to an impairment of this conversion in genital tissues. Molecular analysis in the steroid 5α-reductase type II ge...

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Bibliographic Details
Main Authors: Maricilda Palandi de Mello, Ana Letícia Gori Lusa, Gil Guerra-Júnior, Andréa Trevas Maciel-Guerra, Roberto Benedito de Paiva e Silva, Reginaldo José Petroli, Fernanda Caroline Soardi, Flávia Leme de Calais
Format: Article
Language:English
Published: MDPI AG 2011-12-01
Series:International Journal of Molecular Sciences
Subjects:
SRD5A2 deficiency
SRD5A2 gene mutations
structural analysis
Online Access:http://www.mdpi.com/1422-0067/12/12/9471/

Internet

http://www.mdpi.com/1422-0067/12/12/9471/

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