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Nonclassic TSH Resistance:TSHRMutation Carriers with Discrepantly High Thyroidal Iodine Uptake
Author(s) -
Satoshi Narumi,
Keisuke Nagasaki,
Tomohiro Ishii,
Koji Muroya,
Yumi Asakura,
Masanori Adachi,
Tomonobu Hasegawa
Publication year - 2011
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2011-0070
Subject(s) - medicine , endocrinology , mutant , mutation , receptor , thyrotropin receptor , signal transduction , gnas complex locus , chemistry , cancer research , gene , graves' disease , thyroid , biochemistry
Inactivating mutations in the TSH receptor gene (TSHR) cause TSH resistance. Most patients with TSH resistance have low to normal thyroidal radioiodine uptake (RAIU), which is consistent with the physiological knowledge that TSH stimulates iodine uptake. To date, only one TSHR mutation-carrying family with discrepantly high RAIU has been reported.

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