摘要
目的 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。
关键词： FLRT3基因；先天性促性腺功能减退症；突变；文献复习
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. Conclusion s A number of genes are associated with congenital GnRH deficiency，and need pay attention to variation in the FGF8 synexpression.
Key words： FLRT3 Gene; Congenital Hypogonadotropic Hypogonadism; Mutation; Literature Review
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