The mechanism of congenital central hypothyroidism caused by IGSF1 deficiency

2015 Fiscal Year Final Research Report

• Project/Area Number: 25461380
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Endocrinology
• 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)
• Co-Investigator(Kenkyū-buntansha): TANAHASHI yusuke 旭川医科大学, 医学部, 助教 (50374228)
• Co-Investigator(Renkei-kenkyūsha): MORIYA kimihiko 北海道大学, 大学病院, 講師 (20374233)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 甲状腺 / マススクリーニング / IGSF1 / 下垂体

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.

Free Research Field

小児内分泌