U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Inactivating thyroid-stimulating hormone receptor defect

MedGen UID:
868782
•Concept ID:
C4023187
•
Finding
Synonym: Inactivating TSHR defect
 
HPO: HP:0011791

Definition

Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInactivating thyroid-stimulating hormone receptor defect

Professional guidelines

PubMed

The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.
Sriphrapradang C, Tenenbaum-Rakover Y, Weiss M, Barkoff MS, Admoni O, Kawthar D, Caltabiano G, Pardo L, Dumitrescu AM, Refetoff S
J Clin Endocrinol Metab 2011 Jun;96(6):E1001-6. Epub 2011 Apr 13 doi: 10.1210/jc.2011-0127. PMID: 21490078Free PMC Article

Recent clinical studies

Etiology

Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.
Narumi S, Nagasaki K, Ishii T, Muroya K, Asakura Y, Adachi M, Hasegawa T
J Clin Endocrinol Metab 2011 Aug;96(8):E1340-5. Epub 2011 Jun 15 doi: 10.1210/jc.2011-0070. PMID: 21677043
Congenital hypothyroidism with gland in situ: diagnostic re-evaluation.
Weber G, Vigone MC, Passoni A, Odoni M, Paesano PL, Dosio F, Proverbio MC, Corbetta C, Persani L, Chiumello G
J Endocrinol Invest 2005 Jun;28(6):516-22. doi: 10.1007/BF03347239. PMID: 16117192
Goitrogenic and estrogenic activity of soy isoflavones.
Doerge DR, Sheehan DM
Environ Health Perspect 2002 Jun;110 Suppl 3(Suppl 3):349-53. doi: 10.1289/ehp.02110s3349. PMID: 12060828Free PMC Article

Diagnosis

Resistance to thyrotropin.
Grasberger H, Refetoff S
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):183-194. Epub 2017 Mar 30 doi: 10.1016/j.beem.2017.03.004. PMID: 28648507Free PMC Article
Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis.
Beck-Peccoz P, Persani L, Calebiro D, Bonomi M, Mannavola D, Campi I
Best Pract Res Clin Endocrinol Metab 2006 Dec;20(4):529-46. doi: 10.1016/j.beem.2006.11.001. PMID: 17161330
Congenital hypothyroidism with gland in situ: diagnostic re-evaluation.
Weber G, Vigone MC, Passoni A, Odoni M, Paesano PL, Dosio F, Proverbio MC, Corbetta C, Persani L, Chiumello G
J Endocrinol Invest 2005 Jun;28(6):516-22. doi: 10.1007/BF03347239. PMID: 16117192
Central hypothyroidism: consequences in adult life.
Asteria C, Persani L, Beck-Peccoz P
J Pediatr Endocrinol Metab 2001;14 Suppl 5:1263-9; discussion 1297-8. PMID: 11964021
The gene for the thyrotropin receptor (TSHR) as a candidate gene for congenital hypothyroidism with thyroid dysgenesis.
Krude H, Biebermann H, Göpel W, Grüters A
Exp Clin Endocrinol Diabetes 1996;104 Suppl 4:117-20. doi: 10.1055/s-0029-1211717. PMID: 8981017

Therapy

Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation.
Baş VN, Cangul H, Agladioglu SY, Kendall M, Cetinkaya S, Maher ER, Aycan Z
J Pediatr Endocrinol Metab 2012;25(11-12):1153-6. doi: 10.1515/jpem-2012-0211. PMID: 23329763
Congenital hypothyroidism with gland in situ: diagnostic re-evaluation.
Weber G, Vigone MC, Passoni A, Odoni M, Paesano PL, Dosio F, Proverbio MC, Corbetta C, Persani L, Chiumello G
J Endocrinol Invest 2005 Jun;28(6):516-22. doi: 10.1007/BF03347239. PMID: 16117192
Goitrogenic and estrogenic activity of soy isoflavones.
Doerge DR, Sheehan DM
Environ Health Perspect 2002 Jun;110 Suppl 3(Suppl 3):349-53. doi: 10.1289/ehp.02110s3349. PMID: 12060828Free PMC Article

Prognosis

A RASSF1A polymorphism restricts p53/p73 activation and associates with poor survival and accelerated age of onset of soft tissue sarcoma.
Yee KS, Grochola L, Hamilton G, Grawenda A, Bond EE, Taubert H, Wurl P, Bond GL, O'Neill E
Cancer Res 2012 May 1;72(9):2206-17. Epub 2012 Mar 2 doi: 10.1158/0008-5472.CAN-11-2906. PMID: 22389451Free PMC Article
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.
Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C
J Clin Invest 1997 Jun 15;99(12):3018-24. doi: 10.1172/JCI119497. PMID: 9185526Free PMC Article

Clinical prediction guides

Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.
Narumi S, Nagasaki K, Ishii T, Muroya K, Asakura Y, Adachi M, Hasegawa T
J Clin Endocrinol Metab 2011 Aug;96(8):E1340-5. Epub 2011 Jun 15 doi: 10.1210/jc.2011-0070. PMID: 21677043
Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor.
Park SM, Clifton-Bligh RJ, Betts P, Chatterjee VK
Clin Endocrinol (Oxf) 2004 Feb;60(2):220-7. doi: 10.1111/j.1365-2265.2004.01967.x. PMID: 14725684
TSH receptor and Gs(alpha) genetic analysis in children with Down's syndrome and subclinical hypothyroidism.
Tonacchera M, Perri A, De Marco G, Agretti P, Montanelli L, Banco ME, Corrias A, Bellone J, Tosi MT, Vitti P, Martino E, Pinchera A, Chiovato L
J Endocrinol Invest 2003 Oct;26(10):997-1000. doi: 10.1007/BF03348198. PMID: 14759073
Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene.
Tonacchera M, Agretti P, Pinchera A, Rosellini V, Perri A, Collecchi P, Vitti P, Chiovato L
J Clin Endocrinol Metab 2000 Mar;85(3):1001-8. doi: 10.1210/jcem.85.3.6460. PMID: 10720030
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.
Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C
J Clin Invest 1997 Jun 15;99(12):3018-24. doi: 10.1172/JCI119497. PMID: 9185526Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...