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首页> 外文期刊>International Journal of Molecular Sciences >Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development
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Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development

机译：患有46，XY性发育障碍的巴西兄弟姐妹中5α-还原酶II型缺陷的分子诊断

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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.
机译：类固醇5α-还原酶II型酶催化睾丸激素（T）向二氢睾丸激素（DHT）的转化，由于生殖器官组织中这种转化的受损，其缺乏导致46，XY个人的病毒不足。在两个46，XY女性同胞中进行了类固醇5α-还原酶II型基因（SRD5A2）的分子分析。 SRD5A2基因测序表明患者是纯合的p.Gln126Arg错义突变，这是由CGA> CAA核苷酸取代引起的。分子结果证实了姐姐的46，XY性发育障碍（DSD）的临床诊断，并将研究方向其他家庭成员。对SRD5A2蛋白质结构的研究表明，NADPH结合区发生了严重变化，这表明结构模型分析可用于评估突变引起5α-还原酶II型酶缺乏症的有害作用。

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