Int. J. Mol. Sci. 2011, 12(12), 9471-9480; https://doi.org/10.3390/ijms12129471
Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development
Flávia Leme de Calais 1,2, Fernanda Caroline Soardi 1,2, Reginaldo José Petroli 1,2, Ana Letícia Gori Lusa 1,2, Roberto Benedito de Paiva e Silva 2,3, Andréa Trevas Maciel-Guerra 2,4, Gil Guerra-Júnior 2,5
and Maricilda Palandi de Mello 1,2,*
and Maricilda Palandi de Mello 1,2,*
1
Center of Molecular Biology and Genetic Engineering (CBMEG), State University of Campinas (UNICAMP), Avenida Cândido Rondon 400, 13083-875, Campinas, SP, Brazil
2
Interdisciplinary Group of Studies in Sex Determination and Differentiation (GIEDDS), Faculty of Medical Sciences (FCM), State University of Campinas (UNICAMP), 13083-970 Campinas, SP, Brazil
3
Center of Studies and Researches in Rehabilitation (CEPRE), Faculty of Medical Sciences (FCM), State University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, 126, 13083-970, Campinas, SP, Brazil
4
Department of Medical Genetics, Faculty of Medical Sciences (FCM), State University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, 126, 13083-970, Campinas, SP, Brazil
5
Department of Pediatrics, Faculty of Medical Sciences (FCM), State University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, 126, 13083-970, Campinas, SP, Brazil
*
Author to whom correspondence should be addressed.
Received: 2 September 2011 / Revised: 28 November 2011 / Accepted: 13 December 2011 / Published: 19 December 2011
(This article belongs to the Special Issue Advances in Molecular Diagnostics)
Abstract
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 gene (SRD5A2) was performed in two 46,XY female siblings. SRD5A2 gene sequencing revealed that the patients were homozygous for p.Gln126Arg missense mutation, which results from the CGA > CAA nucleotide substitution. The molecular result confirmed clinical diagnosis of 46,XY disorder of sex development (DSD) for the older sister and directed the investigation to other family members. Studies on SRD5A2 protein structure showed severe changes at NADPH binding region indicating that structural modeling analysis can be useful to evaluate the deleterious role of a mutation as causing 5α-reductase type II enzyme deficiency. View Full-Text
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).
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Calais, F.L.; Soardi, F.C.; Petroli, R.J.; Lusa, A.L.G.; Silva, R.B.P.; Maciel-Guerra, A.T.; Guerra-Júnior, G.; Mello, M.P. Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development. Int. J. Mol. Sci. 2011, 12, 9471-9480.
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