FGFR1基因突变致卡尔曼综合征家系分析1例并文献复习  

A case report and literature review:A family with Kalman syndrome caused by FGFR1 gene mutation

作　　者：姚红 王培 王淑琴 高怡青 侯梦 徐会会 徐鹏 张志宏 张远 朱思琪 薛颖 Yao Hong;Wang Pei;Wang Shuqin;Gao Yiqing;Hou Meng;Xu Huihui;Xu Peng;Zhang Zhihong;Zhang Yuan;Zhu Siqi;Xue Ying(Endocrine Genetic Metabolism Department of Xuzhou Children’s Hospital,Xuzhou 221006,China)

机构地区：[1]徐州市儿童医院内分泌遗传代谢科,徐州221006

出　　处：《国际遗传学杂志》2024年第4期303-308,共6页International Journal of Genetics

基　　金：徐州市儿童医院院内科研项目(22040404)。

摘　　要：目的通过分析本例基因突变所致的卡尔曼综合征家系,使临床医生对卡尔曼综合征的临床表现、诊断和治疗有更加全面的认识,提高临床医生对该病的诊疗水平。方法回顾分析科室收治的1例FGFR1基因突变导致嗅觉缺陷的卡尔曼综合征的家系资料、辅助检查结果,对本病可能的发病机制、临床表现及诊疗方案展开探讨。结果本例卡尔曼综合征患儿临床表现为性腺发育不良,性激素水平低下,嗅球、嗅神经发育不良;染色体核型为46,XY;基因检测显示FGFR1基因c.281T>G,p.V94G杂合突变,临床诊断卡尔曼综合征,给予人绒毛膜促性腺激素/人绝经期促性腺激素治疗。结论临床上同一家系同一基因突变所致的卡尔曼综合征临床表现也不尽相同,更增加了临床医师诊疗的难度,基因检测有助于该病的诊断。ObjectiveTo analyze a family of Kallman syndrome caused by genetic mutations in this case,in order to improve the doctors awareness level of the clinical manifestations,diagnosis,and treatment of Kallman syndrome,and to improve the level of di-agnosis and treatment.MethodsReview and analyze the family data and auxiliary examination results of the case of Kallman syn-drome caused by FGFR1 gene mutation,to explore the possible pathogenesis,clinical manifestations,and diagnosis and treatment plan of this disease.ResultsThe clinical manifestations of this child were gonadal dysplasia,low levels of sex hormones,dysplasia of olfactory bulb and olfactory nerve,chromosome karyotype:46,XY;Genetic results:FGFR1 gene c.281T>G,p.V94G heterozygous mutation,clinically diagnosed with Kallman syndrome,administer human chorionic gonadotropin/human menopausal gonadotro-pin therapy.ConclusionThe clinical manifestations of Kalman syndrome caused by the same genetic mutation in the same family are also different,which increases the difficulty of diagnosis and treatment for clinical physicians.Genetic testing is helpful for the diagnosis of this disease.

关 键 词：FGFR1基因 卡尔曼综合征 先天性低促性腺激素性性腺功能减退症 

分 类 号：R725.9[医药卫生—儿科]