OBJECTIVE: Growth hormone deficiency (GHD) is the most common cause for childhood dwarfism. Currently, the significance of insulin-like growth factor-1 (IGF-1) in diagnosis of GHD is still debatable. Due to the possible correlation between leptin (LEP) and GHD patho-genesis, this study investigated the gene poly-morphism of LEP and its receptor (LEPR) genes, along with serum IGF-1 and LEP levels in GHD patients. This study attempted to illustrate the correlation between gene polymorphism and

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... pathogenesis. PATIENTS AND METHODS: A case-control study was performed using 180 GHD children in addition to 160 healthy controls. PCR-DNA se-quencing method was employed for genotyping various polymorphism loci of LEP and LEPR genes in both GHD and healthy individuals. Serum IGF-1 and LEP levels were also determined. RESULTS: Results revealed a statistically significant difference between the levels of IGF-1 and LEP in the serum samples collected from patients in the GHD and the control groups. Both IGF-1 and LEP levels were found to be correlated with polymorphism at rs7799039 loci of LEP gene, in which GG and GA genotypes carriers had higher serum IGF-1 levels when compared to AA genotype carriers. CONCLUSIONS: GHD pathogenesis is well correlated with the LEP and IGF-1 levels in the both of which were mediated by the gene poly-morphism at rs7799039 loci of LEP gene.