The mechanism of congenital central hypothyroidism caused by IGSF1 deficiency
Project/Area Number |
25461380
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Endocrinology
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Research Institution | Hokkaido University |
Principal Investigator |
Tajima Toshihiro 北海道大学, 医学(系)研究科(研究院), 講師 (50333597)
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Co-Investigator(Kenkyū-buntansha) |
TANAHASHI yusuke 旭川医科大学, 医学部, 助教 (50374228)
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Co-Investigator(Renkei-kenkyūsha) |
MORIYA kimihiko 北海道大学, 大学病院, 講師 (20374233)
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Project Period (FY) |
2013-04-01 – 2016-03-31
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Project Status |
Completed (Fiscal Year 2015)
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Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
|
Keywords | 甲状腺 / マススクリーニング / IGSF1 / 下垂体 / 中枢性甲状線機能低下症 / 肥満 / POU1F1 / TGFB / 変異 / 甲状腺機能低下症 / TSH |
Outline of Final Research Achievements |
Congenital central hypothyroidism (C-CH) is a rare disease in which thyroid hormone deficiency is caused by insufficient thyrotropin (TSH) stimulation of a normally located thyroid gland. So far, it has been known that genetic causes of isolated C-CH are autosomal recessive TSH deficiency and autosomal recessive TRH receptor-inactivating mutations. Recently, the deficiency of immunoglobulin superfamily member 1 (IGSF1) has been demonstrated to cause C-CH. IGSF 1 encodes a plasma membrane immunoglobulin superfamily 1glycoprotien that is highly expressed in pituitary, but it physiological role in human is still unknown. IGSF1 deficiency causes TSH deficiency, leading to hypothyroidism.In addition macroorchidism and delayed puberty are characteristic features. Moreover some patients with IGSF1 deficiency show mild developmental delay and attention deficit disorder. IGSF1 is considered to be a new factor controlling growth and puberty in children.
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Report
(4 results)
Research Products
(30 results)
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[Journal Article] Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan2015
Author(s)
Tanaka T, Igarashi Y, Ozono K, Ohyama K, Ogawa M, Osada H, Onigata K, Kanzaki S, Kohno H, Seino Y, Takahashi H, Tajima T, Tachibana K, Tanaka H, Nishi Y, Hasegawa T, Fujita K, Yorifuji T, Horikawa R, Yokoya S.
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Journal Title
Clinical Pediatric Endocrinology
Volume: 24
Issue: 4
Pages: 167-173
DOI
NAID
ISSN
0918-5739, 1347-7358
Related Report
Peer Reviewed / Open Access
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[Journal Article] Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision)2015
Author(s)
Nagasaki K, Ishi T, Anzo M, Adaci M, Onigata K, Kusua S, Harada S, HOrikawa R, Minagawa M, MInamitanu K, Yamakami Y, Fukushi M, Tajima T.
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Journal Title
Clin Pediatr Endocrinol
Volume: 18
Pages: 78-98
NAID
Related Report
Peer Reviewed / Open Access
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[Journal Article] Prognosis of primary aldosteronism in Japan: results from a nationwide epidemiological study.2014
Author(s)
Miyake Y, Tanaka K, Nishikawa T, Naruse M, Takayanagi R, Sasano H, Takeda Y, Shibata H, Sone M, Satoh F, Yamada M, Ueshiba H, Katabami T, Iwasaki Y, Tanaka H, Tanahashi Y, Suzuki S, Hasegawa T, Katsumata N, Tajima T, Yanase T.
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Journal Title
Endocrine Journal
Volume: 61
Pages: 35-40
NAID
Related Report
Peer Reviewed
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[Presentation] 先天性下垂体形成不全の4例2014
Author(s)
田島敏広
Organizer
第87回日本内分泌学会学術総会
Place of Presentation
福岡国際会議場、福岡県、福岡市
Year and Date
2014-04-23 – 2014-04-26
Related Report
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[Presentation] 福島原発事故前後の環境放射能と先天性甲状腺機能低下症の新生児マス・スクリーニング陽性率、精査率、濾紙血TSH値との関係2014
Author(s)
南谷 幹史原田 正平, 長崎 啓祐, 安達 昌功, 安藏 慎, 石井 智弘, 鬼形 和道, 楠田 聡, 堀川 玲子, 水野 晴夫, 皆川 真規, 田島 敏広, 横谷 進, 福士 勝, 花井 潤師, 田崎 隆二, 山口 清次
Organizer
第87回日本内分泌学会学術総会
Place of Presentation
福岡国際会議場、福岡県、福岡市
Year and Date
2014-04-23 – 2014-04-26
Related Report
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[Presentation] 先天性副腎機能異常の新展開2014
Author(s)
田島敏広
Organizer
第87回日本内分泌学会学術総会
Place of Presentation
福岡国際会議場、福岡県、福岡市
Year and Date
2014-04-23 – 2014-04-26
Related Report
Invited
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[Presentation] Molecular basis of IGSF1 mutations in Japanese patients with X-linked congenital central hypothyroidism.2013
Author(s)
Morikawa S, Nakamura A, Bak B, Silander TL, Lam J, Hotsubo T, Yorifuji T, Ishizu K, Bernard DJ, Tajima T.
Organizer
The 9th Joint meeting, ESPE-LWPES in association with APEG, APPES, SLEP, JSPE
Place of Presentation
MiLano Convention Center (Italy)
Related Report
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[Book] 中山書店2014
Author(s)
田島敏広
Total Pages
235
Publisher
ビギナーのための小児内分泌診療ガイド
Related Report
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