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

被引：3

作者：

de Calais, Flavia Leme ^{[1
,2
]}

Soardi, Fernanda Caroline ^{[1
,2
]}

Petroli, Reginaldo Jose ^{[1
,2
]}

Gori Lusa, Ana Leticia ^{[1
,2
]}

de Paiva e Silva, Roberto Benedito ^{[2
,4
]}

Maciel-Guerra, Andrea Trevas ^{[2
,3
]}

Guerra-Junior, Gil ^{[2
,5
]}

de Mello, Maricilda Palandi ^{[1
,2
]}

机构：

[1] State Univ Campinas UNICAMP, Ctr Mol Biol & Genet Engn CBMEG, BR-13083875 Campinas, SP, Brazil

[2] State Univ Campinas UNICAMP, Fac Med Sci FCM, Interdisciplinary Grp Studies Sex Determinat & Di, BR-13083970 Campinas, SP, Brazil

[3] State Univ Campinas UNICAMP, Fac Med Sci FCM, Dept Med Genet, BR-13083970 Campinas, SP, Brazil

[4] State Univ Campinas UNICAMP, Fac Med Sci FCM, Ctr Studies & Res Rehabil CEPRE, BR-13083970 Campinas, SP, Brazil

[5] State Univ Campinas UNICAMP, Fac Med Sci FCM, Dept Pediat, BR-13083970 Campinas, SP, Brazil

来源：

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | 2011年 / 12卷 / 12期

基金：

巴西圣保罗研究基金会;

关键词：

SRD5A2; deficiency; SRD5A2 gene mutations; structural analysis; REDUCTASE; 2; DEFICIENCY; MALE PSEUDOHERMAPHRODITISM; STEROID; 5-ALPHA-REDUCTASE; GENE; DIFFERENTIATION; MUTATIONS; ENZYMES;

D O I：

10.3390/ijms12129471

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The steroid 5 alpha-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 5 alpha-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 5 alpha-reductase type II enzyme deficiency.

引用

页码：9471 / 9480

页数：10

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