Research & Literature

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

Tylki-Szymańska A, Acuna-Hidalgo R, Krajewska-Walasek M, et al.

Journal of medical genetics 2015; (52(5)):312-6 doi:10.1136/jmedgenet-2014-102936.

A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.

Espiard S, Savagner F, Flamant F, et al.

The Journal of clinical endocrinology and metabolism 2015; (100(8)):2841-8 doi:10.1210/jc.2015-1120.

Resistance to Thyroid Hormone Alpha in an 18-Month-Old Girl: Clinical, Therapeutic, and Molecular Characteristics.

van Gucht AL, Meima ME, Zwaveling-Soonawala N, et al.

Thyroid : official journal of the American Thyroid Association 2016; (26(3)):338-46 doi:10.1089/thy.2015.0463.

Patterns of thyroid hormone receptor expression in zebrafish and generation of a novel model of resistance to thyroid hormone action.

Marelli F, Carra S, Agostini M, et al.

Molecular and cellular endocrinology 2016; (424()):102-17.

Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.

Demir K, van Gucht AL, Büyükinan M, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(8)):2945-54 doi:10.1210/jc.2016-1404.

Factitious Graves' Disease Due to Biotin Immunoassay Interference-A Case and Review of the Literature.

Elston MS, Sehgal S, Du Toit S, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(9)):3251-5 doi:10.1210/jc.2016-1971.

A Novel Thyroid Hormone Receptor Beta Gene Mutation (G251V) in a Thai Patient with Resistance to Thyroid Hormone Coexisting with Pituitary Incidentaloma.

Sriphrapradang C, Srichomkwun P, Refetoff S, Mamanasiri S

Thyroid : official journal of the American Thyroid Association 2016; (26(12)):1804-1806 doi:10.1089/thy.2016.0450.

In vivo Functional Consequences of Human THRA Variants Expressed in the Zebrafish.

Marelli F, Carra S, Rurale G, et al.

Thyroid : official journal of the American Thyroid Association 2017; (27(2)):279-291 doi:10.1089/thy.2016.0373.

Resistance to Thyroid Hormone due to Heterozygous Mutations in Thyroid Hormone Receptor Alpha.

van Gucht ALM, Moran C, Meima ME, et al.

Current topics in developmental biology 2017; (125()):337-355 doi:10.1016/bs.ctdb.2017.02.001.

Novel Mutation (T273R) in Thyroid Hormone Receptor β Gene Provides Further Insight into Cryptic Negative Regulation by Thyroid Hormone.

Kaššák F, Hána V, Saudek V, Kostrouchová M

Folia biologica 2017; (63(2)):60-66 doi:10.14712/fb2017063020060.

Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice.

Srichomkwun P, Anselmo J, Liao XH, et al.

The Journal of clinical endocrinology and metabolism 2017; (102(9)):3234-3240 doi:10.1210/jc.2017-00019.

Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.

Pappa T, Anselmo J, Mamanasiri S, et al.

The Journal of clinical endocrinology and metabolism 2017; (102(10)):3775-3782 doi:10.1210/jc.2017-01251.

Graves' disease coexisting with resistance to thyroid hormone: a rare case.

Sun H, Xu S, Xie S, et al.

Clinical case reports 2018; (6(2)):337-341 doi:10.1002/ccr3.1344.

A case of TSH-secreting pituitary adenoma with cyclic fluctuations in serum TSH levels.

Okuma H, Hashimoto K, Ohashi T, et al.

Endocrine journal 2018; (65(7)):737-746 doi:10.1507/endocrj.EJ18-0006.

Pituitary resistance to thyroid hormone caused by a novel mutation (H435A) in the thyroid hormone receptor beta: A case report.

Yu C, Zhao J, Yao J, et al.

Medicine 2018; (97(21)):e10544 doi:10.1097/MD.0000000000010544.

Apparent Hyperthyroidism Caused by Biotin-Like Interference from IgM Anti-Streptavidin Antibodies.

Lam L, Bagg W, Smith G, et al.

Thyroid : official journal of the American Thyroid Association 2018; (28(8)):1063-1067 doi:10.1089/thy.2017.0673.

Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHβ).

Pappa T, Refetoff S

Methods in molecular biology (Clifton, N.J.) 2018; (1801()):225-240 doi:10.1007/978-1-4939-7902-8_18.

Resistance to thyroid hormone β in autoimmune thyroid disease: a case report and review of literature.

Wu D, Guo R, Guo H, et al.

BMC pregnancy and childbirth 2018; (18(1)):468 doi:10.1186/s12884-018-2110-9.

Genetic and Pharmacological Targeting of Transcriptional Repression in Resistance to Thyroid Hormone Alpha.

Freudenthal B, Shetty S, Butterfield NC, et al.

Thyroid : official journal of the American Thyroid Association 2019; (29(5)):726-734 doi:10.1089/thy.2018.0399.

Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations.

Mimoto MS, Refetoff S

Journal of endocrinological investigation 2020; (43(1)):31-41 doi:10.1007/s40618-019-01084-9.

Syndromes of Resistance to Thyroid Hormone Action.

Persani L, Campi I

Experientia supplementum (2012) 2019; (111()):55-84 doi:10.1007/978-3-030-25905-1_5.

Apparent resistance to thyroid hormones: From biological interference to genetics.

Dieu X, Sueur G, Moal V, et al.

Annales d'endocrinologie 2019; (80(5-6)):280-285 doi:10.1016/j.ando.2019.06.005.

A Novel G385E Variant in the Cold Region of the T3-Binding Domain of Thyroid Hormone Receptor Beta Gene and Investigations to Assess Its Clinical Significance.

Korwutthikulrangsri M, Dosiou C, Dumitrescu AM, Refetoff S

European thyroid journal 2019; (8(6)):293-297 doi:10.1159/000503860.

Familial dysalbuminemic hyperthyroxinemia confounding management of coexistent autoimmune thyroid disease.

Khoo S, Lyons G, Solomon A, et al.

Endocrinology, diabetes & metabolism case reports 2020; (2020()).

Two Novel Cases of Resistance to Thyroid Hormone Due to THRA Mutation.

le Maire A, Bouhours-Nouet N, Soamalala J, et al.

Thyroid : official journal of the American Thyroid Association 2020; (30(8)):1217-1221 doi:10.1089/thy.2019.0602.

Patients with mutations of the Thyroid hormone beta-receptor show an ADHD-like phenotype for performance monitoring: an electrophysiological study.

Uter J, Heldmann M, Rogge B, et al.

NeuroImage. Clinical 2020; (26()):102250 doi:10.1016/j.nicl.2020.102250.

The Clinical Spectrum of Resistance to Thyroid Hormone Alpha in Children and Adults

Erbaş İM, Demir K

Journal of clinical research in pediatric endocrinology 2021; (13(1)):1-14 doi:10.4274/jcrpe.galenos.2020.2019.0190.

Resistance to thyroid hormone due to a novel THRB p.Val349Ala mutation in a Taiwanese boy.

Liu Z, Tsai WY, Lee CT

Journal of the Formosan Medical Association = Taiwan yi zhi 2020; (119(10)):1546-1549 doi:10.1016/j.jfma.2020.05.035.

Physiologic Significance of Epigenetic Regulation of Thyroid Hormone Target Gene Expression.

Anselmo J, Chaves CM

European thyroid journal 2020; (9(3)):114-123 doi:10.1159/000506423.

The Differential Diagnosis of Discrepant Thyroid Function Tests: Insistent Pitfalls and Updated Flow-Chart Based on a Long-Standing Experience.

Campi I, Covelli D, Moran C, et al.

Frontiers in endocrinology 2020; (11()):432 doi:10.3389/fendo.2020.00432.

Coexistence of Autoimmune Hyper- and Hypothyroidism in a Kindred with Reduced Sensitivity to Thyroid Hormone.

Abdellaoui Y, Magkou D, Bakopoulou S, et al.

European thyroid journal 2020; (9(5)):263-268 doi:10.1159/000506424.

Thyroid hormone resistance syndrome with P453T mutation in thyroid hormone receptor β gene: A pedigree report.

Yusufu A, Chen WJ, Zhang MC

Medicine 2020; (99(44)):e22824 doi:10.1097/MD.0000000000022824.

Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) Mutation.

Furman AE, Dumitrescu AM, Refetoff S, Weiss RE

Thyroid : official journal of the American Thyroid Association 2021; (31(6)):1003-1005 doi:10.1089/thy.2020.0695.

Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene.

Pajek M, Avbelj Stefanija M, Trebusak Podkrajsek K, et al.

Medicina (Kaunas, Lithuania) 2020; (56(12)) doi:10.3390/medicina56120699.

Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta.

Chaves C, Bruinstroop E, Refetoff S, et al.

Thyroid : official journal of the American Thyroid Association 2021; (31(7)):1127-1134 doi:10.1089/thy.2020.0651.

Dyslipidemia, Insulin Resistance, Ectopic Lipid Accumulation, and Vascular Function in Resistance to Thyroid Hormone β.

Moran C, McEniery CM, Schoenmakers N, et al.

The Journal of clinical endocrinology and metabolism 2021; (106(5)):e2005-e2014 doi:10.1210/clinem/dgab002.

Familial Dysalbuminemic Hyperthyroxinemia as a Cause for Discordant Thyroid Function Tests.

Ting MJM, Zhang R, Lim EM, et al.

Journal of the Endocrine Society 2021; (5(4)):bvab012 doi:10.1210/jendso/bvab012.

Resistance to Thyroid Hormone Beta: A Focused Review.

Pappa T, Refetoff S

Frontiers in endocrinology 2021; (12()):656551 doi:10.3389/fendo.2021.656551.

A rare mutation of thyroid hormone receptor beta gene in thyroid hormone resistance syndrome.

Del Prete M, Muratori F, Campi I, et al.

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

Thyroid Hormone Receptor α Regulates Autophagy, Mitochondrial Biogenesis, and Fatty Acid Use in Skeletal Muscle.

Zhou J, Gauthier K, Ho JP, et al.

Endocrinology 2021; (162(8)) doi:10.1210/endocr/bqab112.

Triiodothyroacetic Acid Cross-Reacts With Measurement of Triiodothyronine (T3) on Various Immunoassay Platforms.

Chan SL, Refetoff S, Babic N, et al.

American journal of clinical pathology 2022; (157(2)):156-158 doi:10.1093/ajcp/aqab124.

Clinical outcomes of 34 patients with resistance to thyroid hormone beta: a twenty-year experience in Japan.

Ohba K, Sasaki S, Misawa Nakamura H, et al.

Endocrine journal 2022; (69(2)):179-188 doi:10.1507/endocrj.EJ21-0390.

Autoimmune thyroid disease and thyroid function test fluctuations in patients with resistance to thyroid hormone.

Okazaki-Hada M, Nishihara E, Hisakado M, et al.

European journal of endocrinology 2021; (186(1)):73-82.

Reduced pituitary size in subjects with mutations in the THRB gene and thyroid hormone resistance.

Heldmann M, Chatterjee K, Moran C, et al.

Endocrine connections 2022; (11(1)).

Thyroid Hormone Resistance: Multicentrical Case Series Study.

Santos Mata MA, Ariza Jimenez AB, Macias Lopez F, de la Camara Moraño C

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2022; (54(2)):67-75 doi:10.1055/a-1725-8533.

Clinically Symptomatic Resistance to Thyroid Hormone β Syndrome Because of THRB Gene Mosaicism.

Donnars A, Leplat A, Grosheny C, et al.

The Journal of clinical endocrinology and metabolism 2022; (107(9)):e3548-e3552 doi:10.1210/clinem/dgac347.

Morphological and Functional Colonic Defects Caused by a Mutated Thyroid Hormone Receptor α.

Kim M, Kruhlak M, Hoffmann V, et al.

Thyroid : official journal of the American Thyroid Association 2023; (33(2)):239-250 doi:10.1089/thy.2022.0336.

Long-term follow-up results and treatment outcomes of children and adults with resistance to thyroid hormone alpha.

Erbaş IM, Çakır MD, Yener AS, Demir K

Journal of endocrinological investigation 2023; (46(9)):1855-1863 doi:10.1007/s40618-023-02043-1.

Effect of the Fetal THRB Genotype on the Placenta.

Salas-Lucia F, Stan MN, James H, et al.

The Journal of clinical endocrinology and metabolism 2023; (108(10)):e944-e948 doi:10.1210/clinem/dgad243.

Resistance to Thyroid Hormone Beta in a Patient Born to a Mother With Undiagnosed Graves' Disease.

Seetharaman S, Quintos JB, Salas-Lucia F

AACE clinical case reports 2023; (9(3)):63-66 doi:10.1016/j.aace.2023.02.003.

Resistance to thyroid hormone induced tachycardia in RTHα syndrome.

Dore R, Watson L, Hollidge S, et al.

Nature communications 2023; (14(1)):3312 doi:10.1038/s41467-023-38960-1.

Can a novel drug dose be used for T3 suppression test?

Çetin S, Güven M, Bolayır B, et al.

Endocrine 2023; (82(3)):586-589 doi:10.1007/s12020-023-03445-0.

Clinical and Biochemical Characteristics of Untreated Adult Patients With Resistance to Thyroid Hormone Alpha.

Dahll LK, Westbye AB, Vinorum K, et al.

Journal of the Endocrine Society 2023; (7(8)):bvad089 doi:10.1210/jendso/bvad089.

Cardiovascular morbidity and mortality in patients in Wales, UK with resistance to thyroid hormone β (RTHβ): a linked-record cohort study.

Okosieme OE, Usman D, Taylor PN, et al.

The lancet. Diabetes & endocrinology 2023; (11(9)):657-666 doi:10.1016/S2213-8587(23)00155-9.

Approach to the Patient With Raised Thyroid Hormones and Nonsuppressed TSH.

Moran C, Schoenmakers N, Halsall D, et al.

The Journal of clinical endocrinology and metabolism 2024; (109(4)):1094-1108 doi:10.1210/clinem/dgad681.

Challenging diagnosis of resistance to thyroid hormone in a patient with COVID-19, pituitary microadenoma and unusual response to octreotide long-acting release test.

Petolicchio C, Brasili S, Gay S, et al.

Endocrinology, diabetes & metabolism case reports 2024; (2024(2)).

Assessment of Cardiometabolic Risk Factors and Insulin Sensitivity by Hyperinsulinemic-Euglycemic Clamp in Resistance to Thyroid Hormone β Syndrome.

Domingues-Hajj PMS, Gomes PM, Magalhães PKR, Maciel LMZ

Thyroid : official journal of the American Thyroid Association 2024; (34(8)):1038-1046 doi:10.1089/thy.2024.0132.

Structural Insights Into Thyroid Hormone Receptors.

Tambones I, le Maire A

Endocrinology 2024; (166(1)) doi:10.1210/endocr/bqae154.

Clinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone Beta

Büyükyılmaz G, Çavdarlı B, Koca SB, et al.

Journal of clinical research in pediatric endocrinology 2025; (17(2)):191-201 doi:10.4274/jcrpe.galenos.2024.2024-8-14.

Ectopic Thyrotropin-Secreting Tumor in the Nasopharynx Causing Central Hyperthyroidism.

Phylactou M, Dixon L, Rennie C, et al.

JCEM case reports 2025; (3(1)):luae250 doi:10.1210/jcemcr/luae250.

Thyroid Hormone Resistance: A Case Report of a Novel Missense Thyroid Hormone Receptor (THR) Mutation.

Nahar ML, Cui L

Cureus 2025; (17(1)):e77480 doi:10.7759/cureus.77480.

Graves' Masquerade: A Case of Resistance to Thyroid Hormone (RTH) Syndrome.

Chin YH, Anthony Bernard DM, Foo SH

Cureus 2025; (17(1)):e78160 doi:10.7759/cureus.78160.

Cardiovascular Risk and Plasma N-terminal Pro-B-type Natriuretic Peptide in Adults With Resistance to Thyroid Hormone β.

Davis TME, Davis WA, Moran C, et al.

Journal of the Endocrine Society 2025; (9(4)):bvaf023 doi:10.1210/jendso/bvaf023.

Lifestyle Interventions to Tackle Cardiovascular Risk in Thyroid Hormone Signaling Disorders.

Rodolfi S, Rurale G, Marelli F, et al.

Nutrients 2025; (17(13)) doi:10.3390/nu17132053.

Multigenerational thyroid hormone resistance due to THRβ mutation.

Kopanos S, Feldkamp J

European heart journal. Case reports 2025; (9(8)):ytaf338 doi:10.1093/ehjcr/ytaf338.

A Novel THRβ Variant in a Child With Resistance to Thyroid Hormone β: Diagnostic and Therapeutic Challenges.

Gürpınar G, Aracı DG

Journal of clinical research in pediatric endocrinology 2025; doi:10.4274/jcrpe.galenos.2025.2025-6-7.

TRIAC Therapy Relieves Hyperthyroid Symptoms, Lowering T4, T3, and Metabolic Rate in Resistance to Thyroid Hormone β.

Moran C, Martin-Grace J, Lyons G, et al.

The Journal of clinical endocrinology and metabolism 2026; (111(4)):980-987 doi:10.1210/clinem/dgaf583.

Resistance to Thyroid Hormone Beta and Coexisting Thyroid Disease: Diagnostic and Therapeutic Challenges Illustrated by Two Cases.

Ribeiro S, Varela A, Queirós J

Case reports in endocrinology 2025; (2025()):9523606 doi:10.1155/crie/9523606.

[Resistance to thyroid hormone syndrome with developmental disorders in two children].

Liao LY, Li XF, Zhang XX

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2026; (28(1)):115-119 doi:10.7499/j.issn.1008-8830.2504083.

A case of resistance to thyroid hormone beta and literature review: Case report.

Yang Z, Ma S, Dong Y, et al.

Medicine 2026; (105(18)):e48504 doi:10.1097/MD.0000000000048504.

Thyroxine Treatment of Adult RTHα Patients: Safety, Efficacy, and Metabolomic Changes.

Westbye AB, Dahll LK, Bredahl MK, et al.

Thyroid : official journal of the American Thyroid Association 2026; (36(7)):788-794 doi:10.1177/10507256261460201.

Intrafamilial and Age-Dependent Variability in Resistance to Thyroid Hormone Alpha: A Case Report.

Nauwynck E, Ryckx S, Klink D, et al.

Hormone research in paediatrics 2026; 1-7 doi:10.1159/000552527.

Clinical and laboratory characteristics of pediatric patients diagnosed with thyroid hormone resistance: A single-center experience.

Kolbaşı B, Unal E, Durak H, et al.

Endocrine 2026; (91(1)).

Resistance to Thyroid Hormone Due to a Missense Heterozygous Mutation in the THR-β Gene: A Challenging Diagnosis.

Vargas VM, Dwivedi S, Penquite SA

AACE endocrinology and diabetes 2026; (13(4)):557-559 doi:10.1016/j.aed.2026.02.010.

Functional Characterization of a Novel Variant of the Thyroid Hormone Receptor Alpha in a Child with Developmental Delay and Abnormal Thyroid Function.

Caron V, Bonnycastle K, Rio A, et al.

Thyroid : official journal of the American Thyroid Association 2026; 10507256261490862 doi:10.1177/10507256261490862.

Resistance to Thyroid Hormone Alpha: Clinical Spectrum, Diagnostic Clues, and Therapeutic Strategies - A Narrative Review.

Amer B, Haidarah A, Alam A, Kamrul-Hasan ABM

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2026; doi:10.1016/j.eprac.2026.09.118.

Molecular mechanisms underlying the effectiveness of triiodothyroacetic acid (Triac) in patients with resistance to thyroid hormone β (RTHβ): a multicentre, international, retrospective cohort study.

Liao W, Marelli F, Moran C, et al.

EBioMedicine 2026; (133()):106512 doi:10.1016/j.ebiom.2026.106512.