Background: Precocious puberty (PP) is one of its variations which defines as appearance of physical signs of sexual development in a child prior to the earliest accepted age of sexual maturation, 7 years in girls and 9 years in boy. The exact mechanisms and genetic background of ICPP are not well understood. It is suggested that the kisspeptin neuropeptide, encoded by the KISS1 gene, could have role in this regard.
Objective and hypotheses: Considering the higher rate of parental consanguinity among Iranian population and its possible role in the occurrence of PP, the aim of current study was to determine the mutation of kisspeptine gene (KISS1) among a group of patients with PP and role of parental consanguinity in this regard.
Method: In this case control study, a group of children with diagnosed PP and a group of healthy children were selected. Genomic DNA was extracted from peripheral blood of selected population. Occurrence of any mutation or polymorphism in KISS1gene was investigated. The rate of parental consanguinity was determined in patients with and without KISS1gene polymorphism/mutation.
Results: In these study 33 patients with idiopathic PP and 30 control age and sex matched children were studied. Genetic analysis indicated that there was not any polymorphism or mutation in studied participants of control group. Among patients with PP, four SNPs within the promoter and coding regions of KISS1 gene were determined in nine patients (five boys and four girls). There was not any case of familiar PP as well as any case with parental consanguinity among patients with detected polymorphism.
Conclusion: The findings of current study identified one novel polymorphism and three reported polymorphism in KISS1gene among patients with PP in Iran. Considering that parental consanguinity was not associated with reported polymorphism of KISS1gene, further epigenetic studies are recommended.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology