Elucidation of the pathogenic mechanism for the hypogonadotropic hypogonadism and the development of the standard mutation analyses system in congenital hypogonadotropic hypogonadism.

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Congenital hypogonadotropic hypogonadism is a well-known representative disorder of infertility and gonadotropin therapy is effective for gain of fertility. The genetic heterogeneity of these disorders alludes to the possibility of diverse pathogenetic mechanisms underlying a complex genetic trait involving multiple genes(oligogenicity). Establishes a standard mutation analyses method by WAVE system improved the diagnostic efficiency. Also performs functional analysis in newly identified mutations revealed a part of the pathogenic mechanism that involved in various ligand-receptor systems of congenital hypogonadotropic hypogonadism.In the future, we are planning to make database for the results of mutation analyses and clinical data. To elucidated pathophysiology and etiology of hypogonadotropic hypogonadism, next-generation sequencers will be useful for large-scale analysis.