女性特发性低促性腺激素性性腺功能减退症的临床评价及KAL1和FGFR1基因突变分析  

Idiopathic hypogonadotropic hypogonadism and mutations of KAL1 and FGFR1 genes in females

作　　者：汪保安[1] 马晓莉[1] 邹效漫[1] 马芳玲[1] 郑华[1] 窦京涛[1] 母义明[1] 

机构地区：[1]解放军总医院内分泌科,北京100853

出　　处：《军医进修学院学报》2011年第10期1017-1019,共3页Academic Journal of Pla Postgraduate Medical School

摘　　要：目的探讨女性特发性低促性腺激素性性腺功能减退症(Idiopathic Hypogonadotropic Hypogonadism,IHH)的临床特征和相关基因。方法分析4例IHH的临床资料和实验室检查结果,PCR直接测序法对其中3例与健康对照的促性腺激素释放激素受体(GnRHR)、卡尔曼综合征1(KAL1)和纤维母细胞生长因子受体1(FGFR1)基因编码区进行测序分析。结果 4例均具无第二性征发育,逾青春期无月经来潮,促性腺激素及性腺激素水平显著低于正常;正常女性染色体核型,无嗅觉障碍,头部核磁示嗅球和嗅沟均正常。其中3例进行基因检测,未发现GnRHR基因突变,但例3和例4 KAL1基因有两个核苷酸多肽性;例3 FGFR1基因第3外显子第251核苷酸A转换成T,导致错义突变Glu84Val。结论 3例中仅1例发现FGFR1基因突变,提示可能有其他因素导致IHH。Objective To study the clinical characteristics of idiopathic hypogonadotropic hypogonadism（IHH） and its related gene mutations in females.Methods Clinical data and laboratory findings about 4 IHH patients were analyzed.Sequences of the GnRHR,KAL1 and FGFR1 genes in 3 patients and controls were detected by PCR.Results No secondary sex characters were found in the 4 female IHH patients who had a normal karyotype,underdeveloped sexual phenotype,low gonadotropic hormones and estradiol levels.Brain MRI showed normal olfactory bulbs and sulci.No mutation was observed in the GnRHR gene.Two nucleotide polymorphisms were detected in KAL1 gene of cases 3 and 4.The 251A in exon 3 of the FGFR1 gene was transformed into T（Glu84Val）.Conclusion Mutation of the FGFR1 gene occurred only in 1 of the 3 patients in this study,indicating that other factors may lead to IHH.

关 键 词：特发性低促性腺激素性性腺功能减退症 女性 卡尔曼综合征1 纤维母细胞生长因子受体1 

分 类 号：R588.6[医药卫生—内分泌]