Abstract:

Kallmann syndrome (KS) is a genetically and clinically heterogeneous disease, which is characterised by hypogonadotropic hypogonadism complicated with anosmia. Up till now, five pathogenesisrelated genes of fibroblast growth factor receptor 1(FGFR1), fibroblast growth factor 8 (FGF8), prokineticin receptor 2 gene (PROKR2), prokineticin 2 gene (PROK2) and KAL1 have been identified. The research progress on biological activity, function and phenotype-genotype correlations of Kallmann syndrome related proteins is reviewed in this paper, and the diagnosis and treatment of Kallmann syndrome are also introduced.

Key words: Kallmann syndrome, gene, diagnosis, treatment