Research & Literature

Novel germline mutation (Leu512Met) in the thyrotropin receptor gene (TSHR) leading to sporadic non-autoimmune hyperthyroidism.

Roberts SA, Moon JE, Dauber A, Smith JR

Journal of pediatric endocrinology & metabolism : JPEM 2017; (30(3)):343-347.

Structural-Functional Features of the Thyrotropin Receptor: A Class A G-Protein-Coupled Receptor at Work.

Kleinau G, Worth CL, Kreuchwig A, et al.

Frontiers in endocrinology 2017; (8()):86 doi:10.3389/fendo.2017.00086.

Inheritable and sporadic non-autoimmune hyperthyroidism.

Ferraz C, Paschke R

Best practice & research. Clinical endocrinology & metabolism 2017; (31(2)):265-275 doi:10.1016/j.beem.2017.04.005.

Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene.

Cho WK, Ahn MB, Jang W, et al.

Annals of pediatric endocrinology & metabolism 2018; (23(4)):235-239 doi:10.6065/apem.2018.23.4.235.

Thyroid vascularization is an important ultrasonographic parameter in untreated Graves' disease patients.

Vita R, Di Bari F, Perelli S, et al.

Journal of clinical & translational endocrinology 2019; (15()):65-69 doi:10.1016/j.jcte.2019.01.001.

A CASE OF FAMILIAL NONAUTOIMMUNE HYPERTHYROIDISM DURING PREGNANCY.

Okazaki Y, Arata N, Umehara N, et al.

AACE clinical case reports 2020; (6(2)):e94-e97 doi:10.4158/ACCR-2019-0361.

The Role of Nuclear Medicine in the Clinical Management of Benign Thyroid Disorders, Part 1: Hyperthyroidism.

Mariani G, Tonacchera M, Grosso M, et al.

Journal of nuclear medicine : official publication, Society of Nuclear Medicine 2021; (62(3)):304-312 doi:10.2967/jnumed.120.243170.

Familial neonatal nonautoimmune hyperthyroidism due to a gain-of-function (D619G) thyrotropin-receptor mutation.

Taha D, Adhikari A, Flore LA

Journal of pediatric endocrinology & metabolism : JPEM 2021; (34(2)):267-271 doi:10.1515/jpem-2020-0291.

An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial nonautoimmune hyperthyroidism.

Shin JH, Seo GH, Oh SH, et al.

Annals of pediatric endocrinology & metabolism 2020; (25(4)):282-286 doi:10.6065/apem.2040076.038.

Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant.

Suput Omladic J, Pajek M, Groselj U, et al.

Medicina (Kaunas, Lithuania) 2021; (57(3)) doi:10.3390/medicina57030196.

Familial Non-autoimmune Hyperthyroidism in Family Members Across Four Generations Due To a Novel Disease-causing Variant in The Thyrotropin Receptor Gene.

Malej A, Avbelj Stefanija M, Bratanič N, Trebušak Podkrajšek K

Balkan journal of medical genetics : BJMG 2020; (23(2)):87-92 doi:10.2478/bjmg-2020-0022.

Novel presentation of the c.1856A > G (p.Asp619Gly) TSHR gene-activating variant: relapsing hyperthyroidism in three subsequent generations manifesting in early childhood and an in vitro functional study.

Bezdicka M, Kleiblova P, Soucek J, et al.

Hormones (Athens, Greece) 2021; (20(4)):803-812 doi:10.1007/s42000-021-00299-x.

Hyperfunctioning Papillary Thyroid Carcinoma with a BRAF Mutation: The First Case Report and a Literature Review.

Shinkai S, Ohba K, Kakudo K, et al.

European thyroid journal 2021; (10(3)):262-267 doi:10.1159/000513552.

Report of a family with three generations of undiagnosed familial nonautoimmune hyperthyroidism.

Stephenson A, Punjwani Z, Eszlinger M, et al.

Endocrinology, diabetes & metabolism case reports 2021; (2021()).

2022 European Thyroid Association Guideline for the management of pediatric Graves' disease.

Mooij CF, Cheetham TD, Verburg FA, et al.

European thyroid journal 2022; (11(1)).

Performance of Thyroid-Stimulating Immunoglobulin Bioassay and Thyrotropin-Binding Inhibitory Immunoglobulin Assay for the Diagnosis of Graves' Disease in Patients With Active Thyrotoxicosis.

Silva de Morais N, Angell TE, Ahmadi S, et al.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2022; (28(5)):502-508 doi:10.1016/j.eprac.2022.01.007.

The Prediction Model Using Thyroid-stimulating Immunoglobulin Bioassay For Relapse of Graves' Disease.

Baek HS, Lee J, Jeong CH, et al.

Journal of the Endocrine Society 2022; (6(5)):bvac023 doi:10.1210/jendso/bvac023.

Thyroid Storm Caused by Hyperemesis Gravidarum.

Zimmerman CF, Ilstad-Minnihan AB, Bruggeman BS, et al.

AACE clinical case reports 2022; (8(3)):124-127 doi:10.1016/j.aace.2021.12.005.

Autoantibody mimicry of hormone action at the thyrotropin receptor.

Faust B, Billesbølle CB, Suomivuori CM, et al.

Nature 2022; (609(7928)):846-853 doi:10.1038/s41586-022-05159-1.

A case of Hashimoto's thyroiditis following Graves' disease.

Oueslati I, Salhi S, Yazidi M, et al.

Clinical case reports 2022; (10(10)):e6466 doi:10.1002/ccr3.6466.

A Novel TSH Receptor Gene Variant Associated with Non-Autoimmune Hyperthyrotropinemia: A Case Report.

Piva I, Censi S, Manso J, et al.

Endocrine, metabolic & immune disorders drug targets 2024; (24(2)):273-276 doi:10.2174/1871530323666230824153915.

Hyperthyroidism: A Review.

Lee SY, Pearce EN

JAMA 2023; (330(15)):1472-1483 doi:10.1001/jama.2023.19052.

Long-Term Disproportional TSH Hyposecretion in a Patient With Nonautoimmune Hyperthyroidism After Radioiodine Therapy.

Nishihara E, Fukata S, Miyauchi A, Akamizu T

JCEM case reports 2023; (1(2)):luad026 doi:10.1210/jcemcr/luad026.

A Novel TSHR Gene Mutation in a Family with Non-autoimmune Hyperthyroidism.

Kufoof T, Luxford C, Kannangara K, et al.

Medical archives (Sarajevo, Bosnia and Herzegovina) 2024; (78(2)):154-158 doi:10.5455/medarh.2024.78.154-158.

Familial Nonautoimmune Hyperthyroidism Due to a TSH Receptor Gene Pathogenic Variant.

Takahashi S, Nishihara E, Fukata S, et al.

JCEM case reports 2024; (2(10)):luae167 doi:10.1210/jcemcr/luae167.

Controversies Surrounding IGF-I Receptor Involvement in Thyroid-Associated Ophthalmopathy.

Smith TJ

Thyroid : official journal of the American Thyroid Association 2025; (35(3)):232-244 doi:10.1089/thy.2024.0606.

Familial Non-Autoimmune Hyperthyroidism Caused by an Extracellular Domain Variant (p.Leu267Phe) of the TSH Receptor.

Shimura K, Ichihashi Y, Abe K, et al.

Hormone research in paediatrics 2026; (99(5)):623-631 doi:10.1159/000544836.

Mild Thyrotoxicosis due to Seronegative Graves' Disease or Disseminated Thyroid Autonomy.

Charbonne G, Hallak F, Rivera Cruz AE, McDonald SD

AACE clinical case reports 2025; (11(2)):102-106 doi:10.1016/j.aace.2024.12.002.

Performance of the Siemens' thyroid stimulating immunoglobulin assay in the diagnosis of hyperthyroidism: Prospective cohort study.

Kline GA, Proctor DT, Moledina N, et al.

Clinical biochemistry 2025; (137()):110938 doi:10.1016/j.clinbiochem.2025.110938.

Genotype-Phenotype Correlation in Germline TSH Receptor Activating Mutation Associated Hyperthyroidism: A Systematic Review.

Yamichannaiah C, Memon SS, Sarathi V, et al.

Clinical endocrinology 2025; (103(2)):119-128 doi:10.1111/cen.15288.

Delayed Presentation With Atypical Extrathyroidal Manifestations of Sporadic Non-autoimmune Congenital Hyperthyroidism: A Case Report and Literature Review.

Dighe R, Jain V, Aggarwal A, Kulshreshtha B

Cureus 2025; (17(8)):e91040 doi:10.7759/cureus.91040.

Severe Phenotype of De Novo TSHR Activating Pathogenic Variants.

Torrey AC, Zuccaro M, Steinman JB, et al.

Case reports in endocrinology 2025; (2025()):2254609 doi:10.1155/crie/2254609.

A de novo pathogenic variant in TSHR expanding the phenotype of persistent sporadic congenital non-autoimmune hyperthyroidism: a case report and literature review.

Xu W, Liu X

Translational pediatrics 2025; (14(10)):2850-2859 doi:10.21037/tp-2025-380.

Non-autoimmune Familial Hyperthyroidism in Children: The Importance of Genetic Testing.

Sa Pinto M, Ferrão T, Dias Preda A, et al.

Cureus 2026; (18(1)):e100624 doi:10.7759/cureus.100624.

Diagnostic discordance and performance of third-generation competitive TRAb vs. sandwich TSI ELISA in the diagnosis of Graves' disease.

Naser Abed M, Abdul Khaliq RJ

Scandinavian journal of clinical and laboratory investigation 2026; (86(4)):355-360 doi:10.1080/00365513.2026.2669918.

Surgical considerations for adult Graves' disease: a narrative review of indications, perioperative challenges and postoperative outcomes.

Bartalena L, Gallo D, Piantanida E, Tanda ML

Expert review of endocrinology & metabolism 2026; (21(4)):271-289 doi:10.1080/17446651.2026.2676876.

Non-Autoimmune Hyperthyroidism Associated With a Novel Germline Mutation (D633N) in the TSH Receptor.

Mori S, Osaki Y, Fukazawa H, et al.

Case reports in endocrinology 2026; (2026()):3274433 doi:10.1155/crie/3274433.

TSHR Gly413Ser in familial nonautoimmune hyperthyroidism: a case report.

Kelp O, Førsvoll J, Bischof F, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2026; doi:10.1515/jpem-2025-0617.

Neonatal Hyperthyroidism Due to TSHR p.Thr632Ile Variant With a Suggestive Familial Pattern.

Resnick O, Chandler O, Beauchamp G

AACE endocrinology and diabetes 2026; (13(5)):673-676 doi:10.1016/j.aed.2026.06.007.