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.pdfVIP

军 医 进 修 学 院 学 报 J Chinese PLA Postgrad Med Sch Oct 2011，32（10） ·1017· 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 汪保安，马晓莉，邹效漫，马芳玲，郑　华，窦京涛，母义明 解放军总医院 内分泌科，北京　100853 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。 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 中图分类号：R 588.6　　文献标识码：A　　文章编号：1005-1139(2011)10-1017-03　　DOI: CNKI:11-3275/R1454.001 网络出版时间：2011-04-02 14:54:33　　　网络出版地址：/kcms/detail/11.3275.R1454.001.html Idiopathic hypogonadotropic hypogonadism and mutations of KAL1 and FGFR1 genes in females WANG Bao-an, MA Xiao-li, ZOU Xiao-man, MA Fang-ling, ZHENG Hua, DOU Jing-tao, MU Yi-ming Department of Endocrinology, Chinese PLA General Hospital, Beijing 100853, China The first author: WANG Bao-an. Email: endocrine301w@126.com Abstract: 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