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Int. J. Mol. Sci. 2011, 12(12), 9471-9480; doi:10.3390/ijms12129471
Article

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

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Received: 2 September 2011; in revised form: 28 November 2011 / Accepted: 13 December 2011 / Published: 19 December 2011
(This article belongs to the Special Issue Advances in Molecular Diagnostics)
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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.
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.

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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.

AMA Style

Calais FL, Soardi FC, Petroli RJ, Lusa ALG, Silva RBP, Maciel-Guerra AT, Guerra-Júnior G, Mello MP. Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development. International Journal of Molecular Sciences. 2011; 12(12):9471-9480.

Chicago/Turabian Style

Calais, Flávia Leme de; Soardi, Fernanda Caroline; Petroli, Reginaldo José; Lusa, Ana Letícia Gori; Silva, Roberto Benedito de Paiva e; Maciel-Guerra, Andréa Trevas; Guerra-Júnior, Gil; Mello, Maricilda Palandi de. 2011. "Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development." Int. J. Mol. Sci. 12, no. 12: 9471-9480.


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