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Anti-thyroid-stimulating hormone receptor antibody positivity

MedGen UID:
1814349
Concept ID:
C5676780
Finding
Synonyms: Anti-thyrotropin receptor antibody; Anti-TSH receptor antibody positivity; TRAbs
 
HPO: HP:0034189

Definition

The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAnti-thyroid-stimulating hormone receptor antibody positivity

Conditions with this feature

Thyroid hormone resistance, generalized, autosomal recessive
MedGen UID:
483749
Concept ID:
C3489796
Disease or Syndrome
A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.

Professional guidelines

PubMed

Tamaki H, Amino N, Aozasa M, Mori M, Iwatani Y, Tachi J, Nose O, Tanizawa O, Miyai K
Am J Perinatol 1988 Apr;5(2):152-8. doi: 10.1055/s-2007-999676. PMID: 2450549

Recent clinical studies

Etiology

Lui DTW, Lee CH, Chow WS, Lee ACH, Tam AR, Fong CHY, Law CY, Leung EKH, To KKW, Tan KCB, Woo YC, Lam CW, Hung IFN, Lam KSL
Endocrinol Metab (Seoul) 2021 Jun;36(3):582-589. Epub 2021 Jun 8 doi: 10.3803/EnM.2021.983. PMID: 34107601Free PMC Article
Li YR, Tseng CP, Hsu HL, Lin HC, Chen YA, Chen ST, Liou MJ, Lin JD
Clin Chim Acta 2018 Feb;477:74-80. Epub 2017 Dec 8 doi: 10.1016/j.cca.2017.12.011. PMID: 29229463
Tamaki H, Amino N, Aozasa M, Mori M, Iwatani Y, Tachi J, Nose O, Tanizawa O, Miyai K
Am J Perinatol 1988 Apr;5(2):152-8. doi: 10.1055/s-2007-999676. PMID: 2450549

Diagnosis

Akahori H, Usuda R
J Med Case Rep 2021 Sep 25;15(1):473. doi: 10.1186/s13256-021-03061-4. PMID: 34560890Free PMC Article
Ghosh R, Chatterjee S, Dubey S, Pandit A, Ray BK, Benito-León J
Tremor Other Hyperkinet Mov (N Y) 2020 Jul 8;10:19. doi: 10.5334/tohm.175. PMID: 32775033Free PMC Article
Li YR, Tseng CP, Hsu HL, Lin HC, Chen YA, Chen ST, Liou MJ, Lin JD
Clin Chim Acta 2018 Feb;477:74-80. Epub 2017 Dec 8 doi: 10.1016/j.cca.2017.12.011. PMID: 29229463
Arai N, Inaba M, Ichijyo T, Kagami H, Mine Y
J Med Case Rep 2017 Jan 6;11(1):9. doi: 10.1186/s13256-016-1172-4. PMID: 28061802Free PMC Article
Alnaqdy A, Al-Maskari M
Med Princ Pract 2005 Jul-Aug;14(4):209-12. doi: 10.1159/000085736. PMID: 15961927

Therapy

Akahori H, Usuda R
J Med Case Rep 2021 Sep 25;15(1):473. doi: 10.1186/s13256-021-03061-4. PMID: 34560890Free PMC Article
Ghosh R, Chatterjee S, Dubey S, Pandit A, Ray BK, Benito-León J
Tremor Other Hyperkinet Mov (N Y) 2020 Jul 8;10:19. doi: 10.5334/tohm.175. PMID: 32775033Free PMC Article
Ichijo M, Tsuchiya K, Kasai T, Inoshita N, Yoshimoto H, Yamada S, Kitamura K
Intern Med 2020 Feb 15;59(4):545-550. Epub 2019 Oct 15 doi: 10.2169/internalmedicine.3667-19. PMID: 31611532Free PMC Article
Tamaki H, Amino N, Aozasa M, Mori M, Iwatani Y, Tachi J, Nose O, Tanizawa O, Miyai K
Am J Perinatol 1988 Apr;5(2):152-8. doi: 10.1055/s-2007-999676. PMID: 2450549

Prognosis

Lui DTW, Lee CH, Chow WS, Lee ACH, Tam AR, Fong CHY, Law CY, Leung EKH, To KKW, Tan KCB, Woo YC, Lam CW, Hung IFN, Lam KSL
Endocrinol Metab (Seoul) 2021 Jun;36(3):582-589. Epub 2021 Jun 8 doi: 10.3803/EnM.2021.983. PMID: 34107601Free PMC Article
Ichijo M, Tsuchiya K, Kasai T, Inoshita N, Yoshimoto H, Yamada S, Kitamura K
Intern Med 2020 Feb 15;59(4):545-550. Epub 2019 Oct 15 doi: 10.2169/internalmedicine.3667-19. PMID: 31611532Free PMC Article
Li YR, Tseng CP, Hsu HL, Lin HC, Chen YA, Chen ST, Liou MJ, Lin JD
Clin Chim Acta 2018 Feb;477:74-80. Epub 2017 Dec 8 doi: 10.1016/j.cca.2017.12.011. PMID: 29229463
Tamaki H, Amino N, Aozasa M, Mori M, Iwatani Y, Tachi J, Nose O, Tanizawa O, Miyai K
Am J Perinatol 1988 Apr;5(2):152-8. doi: 10.1055/s-2007-999676. PMID: 2450549

Clinical prediction guides

Lui DTW, Lee CH, Chow WS, Lee ACH, Tam AR, Fong CHY, Law CY, Leung EKH, To KKW, Tan KCB, Woo YC, Lam CW, Hung IFN, Lam KSL
Endocrinol Metab (Seoul) 2021 Jun;36(3):582-589. Epub 2021 Jun 8 doi: 10.3803/EnM.2021.983. PMID: 34107601Free PMC Article
Sakurai K, Inoue T, Niitsuma S, Sato R, Takahashi K, Arihara Z
Tohoku J Exp Med 2020 Dec;252(4):321-327. doi: 10.1620/tjem.252.321. PMID: 33268601
Li YR, Tseng CP, Hsu HL, Lin HC, Chen YA, Chen ST, Liou MJ, Lin JD
Clin Chim Acta 2018 Feb;477:74-80. Epub 2017 Dec 8 doi: 10.1016/j.cca.2017.12.011. PMID: 29229463
Tamaki H, Amino N, Aozasa M, Mori M, Iwatani Y, Tachi J, Nose O, Tanizawa O, Miyai K
Am J Perinatol 1988 Apr;5(2):152-8. doi: 10.1055/s-2007-999676. PMID: 2450549

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