Genetic Mutation Analysis of 3 Children with Idiopathic Hypogonadotropic Hypogonadism

Objective To explore the molecular basis in 3 patients with idiopathic hypogonadotropic hypogonadism(IHH) by gene test.MethodsClinical data and blood preparation were collected and careful laboratory examinations were carried out in 3 patients with IHH.Genomic DNA was extracted by FUJIFILM QuickGene-610L from peripheral blood,and 5 most frequent genes of Kallmann syndrome at present and Gonadotropin-releasing hormone receptor(GnRHR) gene of idiopathic hypogonadotropic hypogonadism with normal olfaction(nIHH) were analyzed by amplifying all exons of these 6 genes by PCR,followed by direct PCR product-sequencing.The results of sequencing were analyzed by using Auto Assemble software to detect mutations.ResultsTwo patients were diagnosed with Kallmann syndrome and 1 patient was diagnosed with nIHH.Except for the fact that 2 single nucleortide polymorphism(SNP) sites in prokineticin receptor 2(PROKR2) gene were detected in 2 patients,no mutation was identified in Kallmann syndrome 1(KAL1),fibroblast growth factor receptor 1(FGFR1),PROKR2,prokineticin 2(PROK2) or fibroblast growth factor 8(FGF8) gene in these patients.Moreover,GnRHR gene mutation was not detected in the nIHH patient.ConclusionsIHH is a clinically and genetically heterogeneous disease,and the most frequent mutation genes of IHH were excluded in these 3 patients.It demonstrates that mutations in other genetic sites remain to be disclosed.J Appl Clin Pediatr,2011,26(6): 438-441