Molecular and functional analyses of OTX2 in patients with congenital pituitary hormone deficiency

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Recent studies have suggested a positive role of OTX2 in pituitary as well as ocular development and function. In this study, we performed clinical and molecular analyses in patients with OTX2 mutations, and revealed detailed pituitary phenotype of the mutation positive patients and the mechanism of OTX2 for development of hypopituitarism. These results allow for an appropriate hormone-replacement therapy in patients with OTX2 mutations and an understanding of molecular mechanism of pituitary development.