Idiopathic hypogonadotropic hypogonadism (IHH) is the reduction or absence of Gonadotropic releasing hormone (GnRH) secretion which stimulates FSH and LH (gonadotropins) from the anterior pituitary. This study was carried out to find the link of GnRH coding exon variants affecting final GnRH structure which lead to the disease. The clinical data and blood samples of 35 IHH patients were obtained with their informed consent. The exon 2 of GnRH1 gene, being the coding sequence of GnRH among all 4 exons, was amplified by Polymerase chain reaction (PCR). After PCR amplification, SSCP analysis was done to detect the existence of variations on the basis of difference in migration in Polyacrylamide gel. From SSCP, five samples were selected and sent for sequencing. A known missense variant NM_001083111.2: c.47G>C in exon 2 of GnRH1 gene was observed in two patients without any effect on final structure of protein. In conclusion, this study shows that the GnRH1 exon 2 variants affecting GnRH structure are either not common or in non-coding region for variations in promotor regions, transcriptional region.

Keywords: GnRH1, Idiopathic hypogonadotropic hypogonadism, infertility, sequence variance.