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

最近的研究表明，OTX2在垂体以及眼发育和功能中具有积极作用。在这项研究中，我们对OTX2突变患者进行了临床和分子分析，并揭示了突变阳性患者的详细垂体表型和OTX2发展垂体功能减退症的机制。这些结果允许在具有OTX2突变的患者中进行适当的垂体替代疗法，并理解垂体发育的分子机制。

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.