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Resistance to thyroid hormone due to a novel mutation of thyroid hormone receptor beta gene

Lee JH, Kim EY

Resistance to thyroid hormone (RTH) is a rare inherited syndrome characterized by diminished response of the target tissue to thyroid hormone caused, in the majority of cases, by mutation of...
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A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene

Park TJ, Kang JK, Seo KW, Kim HJ, Chung YS, Lee KW, Jeong SY, Kim HJ, Kim DJ

Resistance syndrome to thyroid hormone (RTH) is a rare autosomal dominant disease that is characterized by decreased tissue responsiveness to thyroid hormone, and it is mainly due to mutations of...
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Case of Thyroid Hormone Resistance Syndrome with a Mutation in the Thyroid Hormone Receptor Beta Gene

Lim SK, Kim SY, Kang JG, Kim CS, Ihm SH, Yoo HJ, Lee SJ

  • KMID: 2258892
  • Korean J Med.
  • 2011 Jun;80(Suppl 2):S220-S226.
In thyroid hormone resistance syndrome (THR) TSH levels are normal or elevated despite thyroid hormone levels being elevated. THR is distinguished from TSH-producing pituitary adenoma by TRH stimulation and alpha-subunit...
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Identification of a de novo mutation (H435Y) in the THRB gene in a Korean patient with resistance to thyroid hormone

Shin JY, Ki CS, Kim JK

The syndrome of resistance to thyroid hormone (RTH) is characterized by reduced tissue sensitivity to thyroid hormone (TH). In the majority of subjects, RTH is caused by mutations in the...
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A Case of Thyroid Hormone Resistance (RTH)

Seo JY, Yoon IS, Yoo JH, Ahn SY, Jeong HL, Shin CH, Yang SW

  • KMID: 2321984
  • J Korean Soc Pediatr Endocrinol.
  • 2005 Jun;10(1):100-104.
Thyroid hormone resistance (RTH) is a rare autosomal dominant disease characterized by reduced tissue sensitivity to thyroid hormone. Approximately 90% of subjects with RTH have mutation in the thyroid hormone...
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A Case with Thyroid Hormone Resistance Syndrome

Lee H, Lee J, Lee DH

Thyroid hormone resistance is a rare syndrome of reduced tissue responsiveness to thyroid hormone. We report the case of a 13-month girl with short height and low weight. She was...
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Thyroid Hormone Resistance in a Preterm Infant with a Novel THRB Mutation

Bae JY, Kim DY, Kwon YD, Song YH, Lim HH, Park HD, Lim JW

Resistance to thyroid hormone (RTH) is a condition caused by a mutation in the thyroid hormone receptor gene. It is rarely reported in individuals with no family history of RTH...
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Resistance to Thyroid Hormone with Missense Mutation (V349M) in the Thyroid Hormone Receptor Beta Gene

Kim JY, Choi ES, Lee JC, Lee KU, Kim YJ, Kim SJ, Lee YW

Resistance to thyroid hormone (RTH) is a syndrome characterized by reduced sensitivity to the thyroid hormone. It is generally caused by mutations in the thyroid hormone receptor beta (TRbeta) gene....
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A Case of Syndrome of Resistance to Thyroid Hormone Associated with Mutation(M313T) in Thyroid Hormone Receptor Beta Gene

Hwang JK, Kim KW, Kim TY, Kim SW, Park YJ, Park DJ, Kim SY, Lee HK, Cho BY

  • KMID: 2331176
  • J Korean Soc Endocrinol.
  • 2003 Apr;18(2):206-213.
Syndrome of resistance to thyroid hormone(RTH) is inherited by an autosomal dominant trait, and characterized by elevated thyroid hormone levels with reduced responsiveness of the pituitary and peripheral tissues to...
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A Case of Resistance to Thyroid Hormone with Thyroid Cancer

Kim HK, Kim D, Yoo EH, Lee JI, Jang HW, Tan AH, Hur KY, Kim JH, Kim KW, Chung JH, Kim SW

Resistance to thyroid hormone (RTH) is an autosomal dominant hereditary disorder that is difficult to diagnose because of its rarity and variable clinical features. The magnitude of RTH is caused...
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A Newly Identified Insertion Mutation in the Thyroid Hormone Receptor-beta Gene in a Korean Family with Generalized Thyroid Hormone Resistance

Kim JH, Park TS, Baek HS, Kim GH, Yoo HW, Park JH

Thyroid hormone resistance syndrome (RTH) is a rare disorder and is characterized by elevated levels of circulating free thyroid hormones, inappropriate secretion of thyroid stimulating hormone (TSH), and reduced peripheral...
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A case of pituitary resistance to thyroid hormone with nonfunctioning pituitary microadenoma

Kim DY, Kim YM, Choi HH, Lee JY, Han JP, Lee SJ, Choi MG

  • KMID: 2305891
  • Korean J Med.
  • 2008 Jan;74(1):94-99.
Resistance to thyroid hormone (RTH) is an autosomal dominant disorder that's characterized by inappropriate normal or elevated TSH levels despite of the elevated thyroid hormone levels. RTH is distinguished from...
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