TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5.
A new case of familial nonautoimmune hyperthyroidism caused by the M463V mutation in the TSH receptor with anticipation of the disease across generations: a possible role of iodine supplementation.
Familial neonatal nonautoimmune hyperthyroidism due to a gain-of-function (D619G) thyrotropin-receptor mutation.
Taha D, Adhikari A, Flore LA.
J Pediatr Endocrinol Metab. 2020 Nov 13;34(2):267-271. doi: 10.1515/jpem-2020-0291. Print 2021 Feb 23.
Familial Non-Autoimmune Hyperthyroidism Caused by an Extracellular Domain Variant (p.Leu267Phe) of the TSH Receptor.
Shimura K, Ichihashi Y, Abe K, Ishii T, Hasegawa T, Narumi S.
Horm Res Paediatr. 2025 Feb 21:1-9. doi: 10.1159/000544836. Online ahead of print.
Genotype-Phenotype Correlation in Germline TSH Receptor Activating Mutation Associated Hyperthyroidism: A Systematic Review.
Yamichannaiah C, Memon SS, Sarathi V, Lila AR, Jadhav SR, Thadani P, Hegishte SC, Barnabas R, Karlekar M, Phadte A, Sharma A, Bandgar T.
Clin Endocrinol (Oxf). 2025 Aug;103(2):119-128. doi: 10.1111/cen.15288. Epub 2025 Jun 5.
TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5.
Karges B, Krause G, Homoki J, Debatin KM, de Roux N, Karges W.
J Endocrinol. 2005 Aug;186(2):377-85. doi: 10.1677/joe.1.06208.
Fetal and neonatal hyperthyroidism.
Zimmerman D.
Thyroid. 1999 Jul;9(7):727-33. doi: 10.1089/thy.1999.9.727.
Inheritable and sporadic non-autoimmune hyperthyroidism.
Ferraz C, Paschke R.
Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):265-275. doi: 10.1016/j.beem.2017.04.005. Epub 2017 Apr 22.
Pathology of the TSH receptor.
Duprez L, Parma J, Van Sande J, Rodien P, Sabine C, Abramowicz M, Dumont JE, Vassart G.
J Pediatr Endocrinol Metab. 1999 Apr;12 Suppl 1:295-302.
Activating mutations of TSH receptor.
Rodien P, Ho SC, Vlaeminck V, Vassart G, Costagliola S.
Ann Endocrinol (Paris). 2003 Feb;64(1):12-6.
Resistance to thyroid hormone.
Chatterjee VK.
Horm Res. 1997;48 Suppl 4:43-6. doi: 10.1159/000191312.
Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations.
Hébrant A, van Staveren WC, Maenhaut C, Dumont JE, Leclère J.
Eur J Endocrinol. 2011 Jan;164(1):1-9. doi: 10.1530/EJE-10-0775. Epub 2010 Oct 6.
