目的:分析男性特发性低促性腺激素型性腺功能减退(IHH)患者KAL1基因突变。方法:30例IHH患者运用聚合酶链反应-单链构象多态性(PCR-SSCP)结合PCR产物直接测序技术分析KAL1基因外显子突变。结果:在30例IHH患者中共发现3例KAL1基因突变,其中1例无义突变,为(c.1270C>T,p.R424X);2例移码突变,分别为(c.279_280delAG,p.G94fs)和(c.1886_1887delTT,p.L629fs)。结论:本文检测到3例KAL1基因突变,其中2例突变是新发现的突变,1例是文献报道过的突变,为IHH的分子遗传学研究积累了宝贵资料。 Objective: To analyze the mutation of KAL1 gene in male patients with idiopathic hypogonadotrophic hypogonadism (IHH). Methods: 30 cases of IHH patients were analyzed by polymerase chain reaction - single strand conformation polymorphism (PCR-SSCP) with PCR product direct sequencing analysis of KAL1 gene exon mutations. Results: Three KAL1 gene mutations were found in 30 IHH patients, including 1 nonsense mutation (c.1270C> T, p.R424X) and 2 frameshift mutations (c.279-280delAG, p. G94fs) and (c.1886_1887delTT, p.L629fs). CONCLUSION: Three KAL1 gene mutations were detected in the present study. Two mutations were newly discovered and one was reported in the literature, which provided valuable data for molecular genetic studies of IHH.