- Resistance to thyroid hormone due to a novel mutation of thyroid hormone receptor beta gene
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Lee JH, Kim EY
- KMID: 1769358
- Ann Pediatr Endocrinol Metab.
- 2014 Dec;19(4):229-231.
- doi: 10.6065/apem.2014.19.4.229
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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- Monogenic Thyroid Disorder
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Cho SW, Park YJ
- KMID: 2095095
- J Korean Thyroid Assoc.
- 2012 Nov;5(2):83-93.
- doi: 10.11106/jkta.2012.5.2.83
Monogenic disorder is a single gene disorder resulted of a single mutated gene. Monogenic disorder has benefits in early diagnosis and precious prediction of disease course. Furthermore, monogenic disorder could... -
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- Mutations in Thyroid Hormone Receptor-beta Associated with Patients with Generalized Resistance and Pituitary Resistance to Thyroid Hormone
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Yun YS, Hong SK, Ahn CW, Nam JH, Park SW, Cha BS, Song YD, Lee EJ, Lim SK, Kim KR, Lee HC, Huh KB
- KMID: 1540029
- J Korean Soc Endocrinol.
- 2000 Mar;15(1):113-120.
We report a point mutation in the TRbeta gene in korean patients with generalized resistance and pituitary resistance to thyroid hormone. One mutation at TRbeta (P453S) were detected in patient... -
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- Case of Thyroid Hormone Resistance Syndrome with a Mutation in the Thyroid Hormone Receptor Beta Gene
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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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- A Case with Thyroid Hormone Resistance Syndrome
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Lee H, Lee J, Lee DH
- KMID: 2437878
- Soonchunhyang Med Sci.
- 2018 Dec;24(2):220-222.
- doi: 10.0000/sms.2018.24.2.220
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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- Resistance to Thyroid Hormone with Missense Mutation (V349M) in the Thyroid Hormone Receptor Beta Gene
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Kim JY, Choi ES, Lee JC, Lee KU, Kim YJ, Kim SJ, Lee YW
- KMID: 1382662
- Korean J Intern Med.
- 2008 Mar;23(1):45-48.
- doi: 10.3904/kjim.2008.23.1.45
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 Thyroid Hormone Resistance (RTH)
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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 Newly Identified Insertion Mutation in the Thyroid Hormone Receptor-beta Gene in a Korean Family with Generalized Thyroid Hormone Resistance
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Kim JH, Park TS, Baek HS, Kim GH, Yoo HW, Park JH
- KMID: 1778372
- J Korean Med Sci.
- 2007 Jun;22(3):560-563.
- doi: 10.3346/jkms.2007.22.3.560
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 Resistance to Thyroid Hormone with Thyroid Cancer
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Kim HK, Kim D, Yoo EH, Lee JI, Jang HW, Tan AH, Hur KY, Kim JH, Kim KW, Chung JH, Kim SW
- KMID: 1785919
- J Korean Med Sci.
- 2010 Sep;25(9):1368-1371.
- doi: 10.3346/jkms.2010.25.9.1368
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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- Thyroid Hormone Resistance in a Preterm Infant with a Novel THRB Mutation
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Bae JY, Kim DY, Kwon YD, Song YH, Lim HH, Park HD, Lim JW
- KMID: 2451609
- Neonatal Med.
- 2019 May;26(2):111-116.
- doi: 10.5385/nm.2019.26.2.111
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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- Molecular Aspects of Congenital Hypothyroidism
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Choi JH
- KMID: 2322003
- J Korean Soc Pediatr Endocrinol.
- 2009 Dec;14(2):87-93.
Recent studies have identified molecular genetic defects in some cases of congenital hypothyroidism as well as in a few cases of central hypothyroidism. These studies have brought to light hitherto... -
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- Clinical and Biochemical Characteristics and Treatment of Patients with Thyrotropin-Secreting Pituitary Adenomas
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Lee WK, Hwang S, Lim JS, Kim HM, Lee EY, Lee SK, Kim SH, Lee EJ
- KMID: 2305759
- Korean J Med.
- 2011 Jan;80(1):47-55.
BACKGROUND/AIMS: Thyrotropin (TSH)-secreting pituitary adenoma (TSHoma) is rare and represents 1~2% of all pituitary adenomas. TSHoma should be distinguished from the thyroid hormone resistance syndrome. Patients with TSHoma may be... -
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