METHODS: The patient presented typical clinical symptoms of delayed testicular development, with testosterone < 3.5 mmol/L and reduced gonadotropin (follicle-stimulating hormone, luteinizing hormone) levels. Two heterozygous variants of the GNRH1 gene were detected, nonsense variant 1: c.85G > T:p.G29* and variant 2: c.1A > G:p.M1V, which disrupted the start codon.
CONCLUSIONS: Two GNRH1 mutations responsible for nIHH are identified in this study. Our findings extend the mutational spectrum of GNRH1 by revealing novel causative mutations of nIHH.
方法:患者出现典型的睾丸发育迟缓的临床症状,睾酮<3.5mmol/L和促性腺激素(促卵泡激素,黄体生成素)水平。检测到GNRH1基因的两个杂合变体,废话变体1:c.85G>T:p。G29*和变体2:c.1A>G:p。M1V,破坏了起始密码子。
结论:在这项研究中发现了两个负责nIHH的GNRH1突变。我们的发现通过揭示nIHH的新型致病突变来扩展GNRH1的突变谱。