2021 Fiscal Year Final Research Report
Clinical and molecular evaluation of central hypothyroidism in Japan
| Project/Area Number |
18K10024
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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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| Review Section |
Basic Section 58020:Hygiene and public health-related: including laboratory approach
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| Research Institution | Niigata University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
沼倉 周彦 山形大学, 医学部, 講師 (00400549)
入月 浩美 新潟大学, 医歯学総合病院, 助教 (80793926)
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| Project Period (FY) |
2018-04-01 – 2022-03-31
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| Keywords | 中枢性甲状腺機能低下症 / 先天性甲状腺機能低下症 / 新生児スクリーニング / FT4スクリーニング / IGSF1 / TBL1X |
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| Outline of Final Research Achievements |
Central hypothyroidism (CCH) can be detected and treated early by FT4 screening (FT4NBS), but the actual clinical presentation is unclear. The purpose of this study was to clarify the clinical presentation and molecular basis of CCH. The clinical presentation and genetics of TSH alone deficiency (iTSHD) were examined in 78 CCH cases collected in a national survey. 28 children were born from FT4NBS areas, suggesting that CCH is missed in other areas.
Of the 15 iTSHD patients, 9 were identified with IGSF1 mutation and 1 with TBL1X mutation. IGSF1 mutations were identified in all 5 cases diagnosed with FT4NBS. More than half of the iTSHD patients in Japan were found to have IGSF1 mutations, and FT4NBS is useful for the diagnosis of iTSHD.
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| Free Research Field |
小児内分泌学
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| Academic Significance and Societal Importance of the Research Achievements |
国内における中枢性甲状腺機能低下症（CCH)の臨床像を始めて明らかにした。また国内の全国調査で収集したTSH単独欠損症に対する分子遺伝学的解析を行い、既報通りIGSF1異常症の頻度が高く、特に新生児スクリーニングでみつかったCCH（TSH単独欠損症)では、全例にIGSF1異常を認めたことを始めて明らかにした。FT4スクリーニングは効率的にCCHを発見できることから、今後全国的なFT4スクリーニング実施に向けて検討が必要である。
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