不同类型隐睾患儿的临床特征和基因变异分析

发布时间：2018-06-02 21:40

本文选题：隐睾 + XY　；参考：《上海医学》2017年05期

【摘要】：目的初步探讨不同类型隐睾患儿的临床特征及其与基因变异的关系。方法选取10例单纯隐睾(单纯隐睾组)和10例合并严重性腺发育不良(DSD)的隐睾患儿(伴DSD组),回顾性分析其临床特点并采集其血液提取DNA,分别采用靶向捕获二代测序和PCR技术检测隐睾相关基因,如胰岛素样因子3(INSL3)、富含亮氨酸G蛋白耦联受体8(LGR8)、雄激素受体(AR)和核受体超家族5组A成员1(NR5A1)基因。结果单纯隐睾组中,2例先天性睾丸功能低下,均未发现基因变异。伴DSD组中,5例临床诊断为完全型雄激素不敏感综合征,其中4例存在AR基因错义突变(c.2107TC,c.2740CG,c.2351AG),均有致病性;NR5A1基因E04有1个单核苷酸多态性(SNP)基因变异,c.G437C(p.G146A)。结论 INSL3和(或)LGR8基因突变并不是单纯隐睾的常见病因;单基因突变不是单纯隐睾的常见病因;而合并46,XY和DSD的隐睾患儿中单基因突变较多,以AR基因突变最常见。
[Abstract]:Objective to explore the clinical characteristics of different types of cryptorchidism and its relationship with gene variation. Methods Ten children with cryptorchidism (simple cryptorchidism group) and 10 children with severe gonadal dysplasia (DSD group) were selected. The clinical features of the cryptorchidism were retrospectively analyzed and their blood DNA was collected. Sequencing and PCR techniques were used to detect genes associated with cryptorchidism. For example, insulin-like factor 3 (INSL3) is rich in leucine G protein coupled receptor 8 (LGR8), androgen receptor (AR1) and nuclear receptor superfamily A group A (1) NR5A1) gene. Results in the simple cryptorchidism group, 2 cases of congenital testicular dysfunction were found without gene variation. In the DSD group, 5 cases were clinically diagnosed as complete androgen insensitive syndrome. Among them, 4 cases had AR gene missense mutation, c. 2107 TCU c. 2740 CGN c 2351 AGN, and all had a single nucleotide polymorphism in E04 of NR5A1 gene, c. G437Cp.G146AN. Conclusion mutation of INSL3 and / or LGR8 gene is not a common cause of simple cryptorchidism, single gene mutation is not a common cause of simple cryptorchidism, but in children with 46 XY and DSD, single gene mutation is more common, AR gene mutation is the most common.
【作者单位】：上海市儿童医院上海交通大学附属儿童医院内分泌科;
【分类号】：R726.9

【参考文献】