• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Balkan journal of medical genetics: BJMG >Novel genotype in two siblings with 5-?±-reductase 2 deficiency: Different clinical course due to the time of diagnosis
【24h】

Novel genotype in two siblings with 5-?±-reductase 2 deficiency: Different clinical course due to the time of diagnosis

机译：两个兄弟姐妹的新型基因型，5-α - -ReaCucease 2缺乏：由于诊断时间，不同的临床课程

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Steroid 5-?±-reductase-2 (5-ARD) deficiency is a result of mutations of the SRD5A2 gene. It causes the disorder of sexual differentiation (DSD) in 46,XY individuals with a variable genital phenotype. We present two siblings with female external genitalia at birth and bilateral inguinal testes, raised as females. These are the first molecularly characterized patients from the Republic of North Macedonia (RN Macedonia) with a different clinical course due to the time of the diagnosis. Diagnosis of Patient 1 was based upon the detection of bilateral inguinal testes and testosterone/dihidrotestosterone ratio. Sex reversal was initiated by testes removal at the age of 20 months. Breast implantation and vaginoplasty were performed in adolescence and the girl is comfortable with the female sex. Her sibling, Patient 2, raised as a girl, was clinically assessed at 11.5 years due to the growth of phalus, deep voice and Adama??s apple enlargement. No change of gender was accepted. Complex molecular analysis including multiplex quantitative fluorescent polymerase chain reaction (PCR) screening for sex chromosome aneuploidies and SRY presence, Sanger sequencing combined with multiplex ligation-dependent probe amplification (MLPA), microarray-based comparative genomic hybridization (aCGH), and real-time PCR analysis for detection of exon copy number changes confirmed a novel c.146CA (p.Ala49Asp) point mutation in the first exon inherited from the mother, and complete deletion of the first exon and adjacent regions inherited from the father. Novel genotype causing 5-ARD is presented. Genetic analysis is useful for the diagnosis and timely gender assignment in patients with 5-ARD. However, final gender assignment is difficult and requires combined medical interventions.
机译：类固醇5-α - -REDUCTYA-2（5-ARD）缺乏是SRD5A2基因突变的结果。它引起了46中的性分化障碍（DSD），具有可变生殖器表型的XY个体。我们在出生和双侧腹股沟睾丸时展示了两种兄弟姐妹，并作为女性提出。这些是来自北马其顿共和国（RN Macedonia）的第一个分子特征的患者，由于诊断的时间，临床课程不同。患者1的诊断基于双侧腹股沟睾丸和睾酮/二酚酮比的检测。性逆转由20个月的睾丸去除开始。乳房植入和阴道成形术在青春期进行，女孩对女性感到舒适。她的兄弟姐妹，患者2，作为一个女孩，在11.5年内被临床评估，由于点击路巴鲁斯，深音和adama的苹果扩大。没有接受性别的变化。复杂分子分析，包括多重定量荧光聚合酶链反应（PCR）筛选性染色体非流量倍增性，Sanger测序与多重结扎依赖性探针扩增（MLPA），基于微阵列的比较基因组杂交（ACGH）和实时的用于检测外显子拷贝数的PCR分析变化证实了从母亲继承的第一个外显子的新型C.146C> A（P.Ala49AsP）点突变，并完全删除了从父亲继承的第一个外显子和邻近地区。提出了一种引起5-ARD的新型基因型。遗传分析可用于5-ARD患者的诊断和及时性别分配。但是，最终性别任务很困难，需要组合医疗干预措施。

著录项

相似文献

  • 外文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号