| Project/Area Number |
15K09627
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | International University of Health and Welfare (2017-2018)
Nagoya City University (2015-2016) |
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Principal Investigator |
Mizuno Haruo 国際医療福祉大学, 医学部, 教授 (70363942)
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| Co-Investigator(Kenkyū-buntansha) |
齋藤 伸治 名古屋市立大学, 大学院医学研究科, 教授 (00281824)
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| Project Period (FY) |
2015-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Keywords | ゴナドトロピン分泌低下症 / hCG-rhFSH治療 / テストステロン治療 / 性腺機能低下症 |
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| Outline of Final Research Achievements |
We investigated comprehensive genes analysis for the patients with congenital hypogonadotropic hypogonadism (CHH) diagnosed clinically to determine how we could do our best to get fertility in CHH males. As a result, we could clarify the responsible gene mutations in only 2/3 patients. The oldest patient was twenty-four years old. So, we could not reach the conclusion what kinds of treatment was the best to get fertility in CHH males. As previous described, we tried to do rhFSH pretreatment followed by gonadotropin therapy. However, some CHH males with extremely small testes did not response. It was suggested that the reactivity to some kinds of treatment depends on individual in CHH males.
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| Academic Significance and Societal Importance of the Research Achievements |
先天性低ゴナドトロピン性性腺機能低下症（CHH）男性の治療については、いまだ、明らかなエビデンスのある妊孕性に最適な治療プロトコールは確立されていない。本研究では、先天性低ゴナドトロピン性性腺機能低下症男性の網羅的遺伝子解析を施行し、2/3程度の患者で責任遺伝子の異常を確認できた。当初の目的であった正確な遺伝子診断に基づいたテーラーメード医療の確立までは到達できなかったが、CHH男性の遺伝子解析を多く行い、2/3程度ではあるが、その責任遺伝子を確定できたことことで、今後のテーラーメード医療につながるものと考えている。全エクソーム解析の発展より全ての患者の責任遺伝子が解明されることを期待したい。
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