军医进修学院学报2011，Vol.32Issue(10)：1017-1019,3.DOI:11-3275/R.20110402.1454.001
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
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
作者信息
- 1. 解放军总医院 内分泌科,北京100853
- 折叠
摘要
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 the FGFR 1 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1Key words
idiopathic hypogonadotropic hypogonadism/ female/ KAL1/ FGFR1分类
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汪保安,马晓莉,邹效漫,马芳玲,郑华,窦京涛,母义明..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[J].军医进修学院学报,2011,32(10):1017-1019,3.
