FLRT3基因突变致先天性促性腺功能减退症1例报道并文献复习-国际临床研究杂志-CSCIED科技核心评价数据库-手机版

FLRT3基因突变致先天性促性腺功能减退症1例报道并文献复习

A case of Congenital hypogonadotropic hypogonadism caused by FLRT3 gene mutation report and literature review

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DOI	10.12208/j.ijcr.20220151
刊名	国际临床研究杂志 International Journal of Clinical Research
年，卷(期)	2022, 6(4)
作者	王爱萍*,周焕珍,陈星宇,
作者单位	昆明市第一人民医院儿童生长发育管理中心云南昆明 ;
摘要	报道1例FLRT3基因新发杂合变异导致先天性促性腺功能减退症病例。方法回顾分析1例先天性促性腺功能减退症患儿的临床资料，并检索相关文献，总结其基因型及临床特点。结果患儿女，16岁，存在无月经初潮表现。基因分析显示患儿FLRT3基因有一个新发杂合变异c.1484T＞C（p.V495A），为错义变异。结论许多基因突变与先天性促性腺功能减退症有关，尤其应注意关注“FGF8表达合成基因组”基因的突变。
Abstract	Objective: To report a case of congenital hypogonadotropic hypogonadism with a new heterozygous variation in FLRT3 gene. Method The clinic data of congenital hypogonadotropic hypogonadism in a child were retrospectively analyzed ,the related literatures were reviewed and its clinical features and genotypes were summarized. Results A girl, sixteen years old, had no menarche. Gene analysis showed that there was a new heterozygous variation in the FLRT3 gene of the girl, c.1484T＞C（p.V495A）,which was missense variants. Conclusions A number of genes are associated with congenital GnRH deficiency，and need pay attention to variation in the FGF8 synexpression.
关键词	FLRT3基因；先天性促性腺功能减退症；突变；文献复习
KeyWord	FLRT3 Gene; Congenital Hypogonadotropic Hypogonadism; Mutation; Literature Review
基金项目
页码	41-45

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王爱萍*,周焕珍,陈星宇. FLRT3基因突变致先天性促性腺功能减退症1例报道并文献复习 [J]. 国际临床研究杂志. 2022; 6; (4). 41 - 45.

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