Next Article in Journal
Modeling Natural Anti-Inflammatory Compounds by Molecular Topology
Next Article in Special Issue
Genetic Variability and Phylogeny of High Risk HPV Type 16, 18, 31, 33 and 45 L1 Gene in Greek Women
Previous Article in Journal
Use of Peroxyacetic Acid as Green Chemical on Yield and Sensorial Quality in Watercress (Nasturtium officinale R. Br.) Under Soilless Culture
Previous Article in Special Issue
Loop-Mediated Amplification Accelerated by Stem Primers
Int. J. Mol. Sci. 2011, 12(12), 9471-9480; doi:10.3390/ijms12129471

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

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)
View Full-Text   |   Download PDF [1297 KB, uploaded 19 June 2014]   |   Browse Figures


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.
Keywords: SRD5A2 deficiency; SRD5A2 gene mutations; structural analysis SRD5A2 deficiency; SRD5A2 gene mutations; structural analysis
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Share & Cite This Article

Further Mendeley | CiteULike
Export to BibTeX |
MDPI and ACS Style

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.

View more citation formats

Related Articles

Article Metrics

For more information on the journal, click here


Cited By

[Return to top]
Int. J. Mol. Sci. EISSN 1422-0067 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert