| Project/Area Number |
24591536
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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 | The University of Tokyo (2014-2015)
National Research Institute for Child Health and Development (2012-2013) |
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Principal Investigator |
SATO NAOKO 東京大学, 医学部附属病院, 登録研究員 (10383069)
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| Co-Investigator(Kenkyū-buntansha) |
SEO Misuzu 京都産業大学, 総合生命科学部, 教授 (60211223)
KITANAKA Sachiko 東京大学, 医学部附属病院, 准教授 (30431638)
田中 敏章 国立研究開発法人国立成育医療研究センター, その他部局等, 臨床研究員 (90142067)
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| Research Collaborator |
TANAKA Toshiaki たなか成長クリニック
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| Project Period (FY) |
2012-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2012: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 妊孕性獲得 / 遺伝子解析 / ゴナドトロピン療法 / 低ゴナドトロピン性性腺機能低下症 / rFSH先行療法 / 治療ガイドライン / 男性性腺機能低下症 / 男性先天性中枢性性腺機能 / 次世代シーケンサー解析 / 性腺補充療法 / 変異解析 / 不妊 / 少子化対策 / 治療効果 / 変異機能解析 / 男性先天性中枢性性腺機能低下症 |
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| Outline of Final Research Achievements |
Congenital Male Hypogonadotropic Hypogonadism (CMHH) is a causative disorder of infertility, 70% of the cause of which however is unknown yet. The therapeutic guidelines in consideration of prospective fertilities have not been established.To establish new diagnostic methods and therapeutic guidelines for CMHH, we analyzed mutational genes along with clinical data, applying next-generation sequencer to 41 CMHH patients. As a result, we identified ten mutations, and simultaneously found that one of the FGF-network-associated-gene’s variations may cause nerve developmental disabilities and that a preemptive rFSH therapy provided prior to a gonadotropin therapy (GT) improves spermatogenesis and symptom of prognosis after the therapy.
The outcome above suggests that NGS is an efficient method to diagnose CMHH with genetic heterogeneity and that the new protocol giving preemptive rFSH therapy prior to GT is effective to obtain favorable fertility.
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