Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report

Abstract

Abstract Background Idiopathic hypogonadotropic hypogonadism (IHH) is a rare congenital or acquired genetic disorder caused by gonadotropin-releasing hormone (GnRH) deficiency. IHH patients are divided into two major groups, hyposmic or anosmic IHH (Kallmann syndrome) and normosmic IHH (nIHH), according to whether their sense of smell is intact. Here we report a case of novel compound heterozygous mutations in the GNRH1 gene in a 15-year-old male with nIHH. Case presentation The patient presented typical clinical symptoms of delayed testicular development, with testosterone 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.

Keywords

• Idiopathic hypogonadotropic hypogonadism
• Gonadotropin-releasing hormone 1
• Delayed puberty