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Showing 1 to 12 of 28 entries
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Diagnostic Dilemma in Discordant Thyroid Function Tests Due to Thyroid Hormone Autoantibodies.

AACE clinical case reports

Srichomkwun P, Scherberg NH, Jakšić J, Refetoff S.
PMID: 28078322
AACE Clin Case Rep. 2017;3(1):e22-e25. doi: 10.4158/EP151142.CR.

OBJECTIVE: Assay interference could be the cause of abnormal thyroid function tests. Early recognition prevents inappropriate patient management. The objective of this report is to present a case with discordant thyroid function tests in different thyroid assay platforms due...

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Srichomkwun P, Scherberg NH, Jakšić J, et al. Diagnostic Dilemma in Discordant Thyroid Function Tests Due to Thyroid Hormone Autoantibodies. AACE Clin Case Rep. 2017;3(1):e22-e25doi: 10.4158/EP151142.CR.
Srichomkwun, P., Scherberg, N. H., Jakšić, J., & Refetoff, S. (2017). Diagnostic Dilemma in Discordant Thyroid Function Tests Due to Thyroid Hormone Autoantibodies. AACE clinical case reports, 3(1), e22-e25. https://doi.org/10.4158/EP151142.CR
Srichomkwun, Panudda, et al. "Diagnostic Dilemma in Discordant Thyroid Function Tests Due to Thyroid Hormone Autoantibodies." AACE clinical case reports vol. 3,1 (2017): e22-e25. doi: https://doi.org/10.4158/EP151142.CR
Srichomkwun P, Scherberg NH, Jakšić J, Refetoff S. Diagnostic Dilemma in Discordant Thyroid Function Tests Due to Thyroid Hormone Autoantibodies. AACE Clin Case Rep. 2017;3(1):e22-e25. doi: 10.4158/EP151142.CR. PMID: 28078322; PMCID: PMC5222615.
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A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature.

International journal of pediatric endocrinology

Larsen CC, Karaviti LP, Seghers V, Weiss RE, Refetoff S, Dumitrescu AM.
PMID: 25873976
Int J Pediatr Endocrinol. 2014;2014(1):23. doi: 10.1186/1687-9856-2014-23. Epub 2014 Nov 17.

Germline nonautoimmune hyperthyroidism due to an activating mutation in the thyroid stimulating hormone receptor gene is an uncommon disease. To date 32 different mutations have been described. The severity of the hyperthyroid symptoms is variable and phenotype differences have...

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Larsen CC, Karaviti LP, Seghers V, et al. A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature. Int J Pediatr Endocrinol. 2014;2014(1):23doi: 10.1186/1687-9856-2014-23.
Larsen, C. C., Karaviti, L. P., Seghers, V., Weiss, R. E., Refetoff, S., & Dumitrescu, A. M. (2014). A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature. International journal of pediatric endocrinology, 2014(1), 23. https://doi.org/10.1186/1687-9856-2014-23
Larsen, Cæcilie C, et al. "A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature." International journal of pediatric endocrinology vol. 2014,1 (2014): 23. doi: https://doi.org/10.1186/1687-9856-2014-23
Larsen CC, Karaviti LP, Seghers V, Weiss RE, Refetoff S, Dumitrescu AM. A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature. Int J Pediatr Endocrinol. 2014;2014(1):23. doi: 10.1186/1687-9856-2014-23. Epub 2014 Nov 17. PMID: 25873976; PMCID: PMC4396564.
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Molecular basis of inherited thyroxine-binding globulin defects.

Trends in endocrinology and metabolism: TEM

Janssen OE, Bertenshaw R, Takeda K, Weiss R, Refetoff S.
PMID: 18407078
Trends Endocrinol Metab. 1992 Mar;3(2):49-53. doi: 10.1016/1043-2760(92)90043-z.

Thyroxine-binding globulin (TBG) is a liver glycoprotein that transports thyroid hormones in serum. Inherited TBG defects appear as partial or complete deficiency and TBG excess. Sequencing of the TBG gene located on the X-chromosome has revealed nucleotide substitutions in...

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Janssen OE, Bertenshaw R, Takeda K, et al. Molecular basis of inherited thyroxine-binding globulin defects. Trends Endocrinol Metab. 1992;3(2):49-53doi: 10.1016/1043-2760(92)90043-z.
Janssen, O. E., Bertenshaw, R., Takeda, K., Weiss, R., & Refetoff, S. (1992). Molecular basis of inherited thyroxine-binding globulin defects. Trends in endocrinology and metabolism: TEM, 3(2), 49-53. https://doi.org/10.1016/1043-2760(92)90043-z
Janssen, O E, et al. "Molecular basis of inherited thyroxine-binding globulin defects." Trends in endocrinology and metabolism: TEM vol. 3,2 (1992): 49-53. doi: https://doi.org/10.1016/1043-2760(92)90043-z
Janssen OE, Bertenshaw R, Takeda K, Weiss R, Refetoff S. Molecular basis of inherited thyroxine-binding globulin defects. Trends Endocrinol Metab. 1992 Mar;3(2):49-53. doi: 10.1016/1043-2760(92)90043-z. PMID: 18407078.
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TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews.

European thyroid journal

Shaki D, Eskin-Schwartz M, Hadar N, Bosin E, Carmon L, Refetoff S, Hershkovitz E, Birk OS, Haim A.
PMID: 34981755
Eur Thyroid J. 2022 Jan 07;11(1). doi: 10.1530/ETJ-21-0072.

OBJECTIVE: Bi-allelic loss-of-function mutations in TSHB, encoding the beta subunit of thyroid-stimulating hormone (TSH), cause congenital hypothyroidism. Homozygosity for the TSHB p.R75G variant, previously described in South Asian individuals, does not alter TSH function but abrogates its detection by...

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Shaki D, Eskin-Schwartz M, Hadar N, et al. TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews. Eur Thyroid J. 2022;11(1)doi: 10.1530/ETJ-21-0072.
Shaki, D., Eskin-Schwartz, M., Hadar, N., Bosin, E., Carmon, L., Refetoff, S., Hershkovitz, E., Birk, O. S., & Haim, A. (2022). TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews. European thyroid journal, 11(1), . https://doi.org/10.1530/ETJ-21-0072
Shaki, David, et al. "TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews." European thyroid journal vol. 11,1 (2022). doi: https://doi.org/10.1530/ETJ-21-0072
Shaki D, Eskin-Schwartz M, Hadar N, Bosin E, Carmon L, Refetoff S, Hershkovitz E, Birk OS, Haim A. TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews. Eur Thyroid J. 2022 Jan 07;11(1). doi: 10.1530/ETJ-21-0072. PMID: 34981755.
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Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.

Thyroid : official journal of the American Thyroid Association

Salas-Lucia F, Franca MM, Amrhein J, Weir JE, Dumitrescu AM, Refetoff S.
PMID: 34969265
Thyroid. 2021 Dec 30; doi: 10.1089/thy.2021.0523. Epub 2021 Dec 30.

We report a patient with congenital hypothyroidism due to athyreosis complicated by a heterozygous thyroid hormone receptor beta (THRB) gene mutation (R320L), resulting in a severe resistance to thyroid hormone beta phenotype. The proband inherited the mutant allele from...

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Salas-Lucia F, Franca MM, Amrhein J, et al. Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis. Thyroid. 2021;doi: 10.1089/thy.2021.0523.
Salas-Lucia, F., Franca, M. M., Amrhein, J., Weir, J. E., Dumitrescu, A. M., & Refetoff, S. (2021). Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis. Thyroid : official journal of the American Thyroid Association, . https://doi.org/10.1089/thy.2021.0523
Salas-Lucia, Federico, et al. "Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis." Thyroid : official journal of the American Thyroid Association vol. (2021). doi: https://doi.org/10.1089/thy.2021.0523
Salas-Lucia F, Franca MM, Amrhein J, Weir JE, Dumitrescu AM, Refetoff S. Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis. Thyroid. 2021 Dec 30; doi: 10.1089/thy.2021.0523. Epub 2021 Dec 30. PMID: 34969265.
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Novel .

Thyroid : official journal of the American Thyroid Association

Furman A, Hannoush Z, Echegoyen FB, Dumitrescu A, Refetoff S, Weiss RE.
PMID: 34128397
Thyroid. 2021 Oct;31(10):1589-1591. doi: 10.1089/thy.2021.0210. Epub 2021 Jul 16.

A family with congenital hypothyroidism was identified with two novel deleterious compound heterozygous thyroid peroxidase (

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Furman A, Hannoush Z, Echegoyen FB, et al. Novel . Thyroid. 2021;31(10):1589-1591doi: 10.1089/thy.2021.0210.
Furman, A., Hannoush, Z., Echegoyen, F. B., Dumitrescu, A., Refetoff, S., & Weiss, R. E. (2021). Novel . Thyroid : official journal of the American Thyroid Association, 31(10), 1589-1591. https://doi.org/10.1089/thy.2021.0210
Furman, Aryel, et al. "Novel ." Thyroid : official journal of the American Thyroid Association vol. 31,10 (2021): 1589-1591. doi: https://doi.org/10.1089/thy.2021.0210
Furman A, Hannoush Z, Echegoyen FB, Dumitrescu A, Refetoff S, Weiss RE. Novel . Thyroid. 2021 Oct;31(10):1589-1591. doi: 10.1089/thy.2021.0210. Epub 2021 Jul 16. PMID: 34128397.
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Triiodothyroacetic Acid Cross-Reacts With Measurement of Triiodothyronine (T3) on Various Immunoassay Platforms.

American journal of clinical pathology

Chan SL, Refetoff S, Babic N, Jin M, Garg U, Yeo KJ.
PMID: 34542585
Am J Clin Pathol. 2021 Sep 20; doi: 10.1093/ajcp/aqab124. Epub 2021 Sep 20.

OBJECTIVES: Thyroid hormone analog 3,5,3'-triiodothyroacetic acid (TRIAC) is effective in reducing the hypermetabolism in monocarboxylate transporter 8 (MCT8)-deficient individuals. Because of the structural similarity between TRIAC and 3,3',5'-triiodothyronine (T3), we sought to investigate the degree of cross-reactivity of TRIAC...

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Chan SL, Refetoff S, Babic N, et al. Triiodothyroacetic Acid Cross-Reacts With Measurement of Triiodothyronine (T3) on Various Immunoassay Platforms. Am J Clin Pathol. 2021;doi: 10.1093/ajcp/aqab124.
Chan, S. L., Refetoff, S., Babic, N., Jin, M., Garg, U., & Yeo, K. J. (2021). Triiodothyroacetic Acid Cross-Reacts With Measurement of Triiodothyronine (T3) on Various Immunoassay Platforms. American journal of clinical pathology, . https://doi.org/10.1093/ajcp/aqab124
Chan, Siaw Li, et al. "Triiodothyroacetic Acid Cross-Reacts With Measurement of Triiodothyronine (T3) on Various Immunoassay Platforms." American journal of clinical pathology vol. (2021). doi: https://doi.org/10.1093/ajcp/aqab124
Chan SL, Refetoff S, Babic N, Jin M, Garg U, Yeo KJ. Triiodothyroacetic Acid Cross-Reacts With Measurement of Triiodothyronine (T3) on Various Immunoassay Platforms. Am J Clin Pathol. 2021 Sep 20; doi: 10.1093/ajcp/aqab124. Epub 2021 Sep 20. PMID: 34542585.
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TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews.

European thyroid journal

Shaki D, Eskin-Schwartz M, Hadar N, Bosin E, Carmon L, Refetoff S, Hershkovitz E, Birk OS, Haim A.
PMID: 34981755
Eur Thyroid J. 2021 Nov 01; doi: 10.1530/ETJ-21-0072. Epub 2021 Nov 01.

OBJECTIVE: Bi-allelic loss-of-function mutations in TSHB, encoding the beta-subunit of TSH, cause congenital non-goiterous hypothyroidism. Homozygosity for the TSHB p.R75G variant, previously described in South Asian individuals, does not alter TSH function, but abrogates its detection by some immune-detection-based...

Cite
Shaki D, Eskin-Schwartz M, Hadar N, et al. TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews. Eur Thyroid J. 2021;doi: 10.1530/ETJ-21-0072.
Shaki, D., Eskin-Schwartz, M., Hadar, N., Bosin, E., Carmon, L., Refetoff, S., Hershkovitz, E., Birk, O. S., & Haim, A. (2021). TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews. European thyroid journal, . https://doi.org/10.1530/ETJ-21-0072
Shaki, David, et al. "TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews." European thyroid journal vol. (2021). doi: https://doi.org/10.1530/ETJ-21-0072
Shaki D, Eskin-Schwartz M, Hadar N, Bosin E, Carmon L, Refetoff S, Hershkovitz E, Birk OS, Haim A. TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews. Eur Thyroid J. 2021 Nov 01; doi: 10.1530/ETJ-21-0072. Epub 2021 Nov 01. PMID: 34981755.
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INSUFFICIENCY OF LEVOTHYROXINE THERAPY IN AUTOIMMUNE HYPOTHYROIDISM: EFFECT OF GLUCOCORTICOID ADMINISTRATION.

Acta endocrinologica (Bucharest, Romania : 2005)

Lozanov B, Gorcheva D, Lozanov LB, Koleva V, Refetoff S.
PMID: 31149227
Acta Endocrinol (Buchar). 2017 Oct-Dec;13(4):515-518. doi: 10.4183/aeb.2017.515.

OBJECTIVE: The non-effectiveness of levothyroxine administration in hypothyroidism depends on many factors and mechanisms influencing its absorption in small intestins or bounding of circulating hormone with different active molecules.METHODS: Thyroid hormones, TSH, rT3, TGl, TPO-Ab, TG-Ab, were measured using...

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Lozanov B, Gorcheva D, Lozanov LB, et al. INSUFFICIENCY OF LEVOTHYROXINE THERAPY IN AUTOIMMUNE HYPOTHYROIDISM: EFFECT OF GLUCOCORTICOID ADMINISTRATION. Acta Endocrinol (Buchar). 2017;13(4):515-518doi: 10.4183/aeb.2017.515.
Lozanov, B., Gorcheva, D., Lozanov, L. B., Koleva, V., & Refetoff, S. (2017). INSUFFICIENCY OF LEVOTHYROXINE THERAPY IN AUTOIMMUNE HYPOTHYROIDISM: EFFECT OF GLUCOCORTICOID ADMINISTRATION. Acta endocrinologica (Bucharest, Romania : 2005), 13(4), 515-518. https://doi.org/10.4183/aeb.2017.515
Lozanov, B, et al. "INSUFFICIENCY OF LEVOTHYROXINE THERAPY IN AUTOIMMUNE HYPOTHYROIDISM: EFFECT OF GLUCOCORTICOID ADMINISTRATION." Acta endocrinologica (Bucharest, Romania : 2005) vol. 13,4 (2017): 515-518. doi: https://doi.org/10.4183/aeb.2017.515
Lozanov B, Gorcheva D, Lozanov LB, Koleva V, Refetoff S. INSUFFICIENCY OF LEVOTHYROXINE THERAPY IN AUTOIMMUNE HYPOTHYROIDISM: EFFECT OF GLUCOCORTICOID ADMINISTRATION. Acta Endocrinol (Buchar). 2017 Oct-Dec;13(4):515-518. doi: 10.4183/aeb.2017.515. PMID: 31149227; PMCID: PMC6516545.
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Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta.

Thyroid : official journal of the American Thyroid Association

Chaves C, Bruinstroop E, Refetoff S, Yen PM, Anselmo J.
PMID: 33353459
Thyroid. 2021 Jul;31(7):1127-1134. doi: 10.1089/thy.2020.0651. Epub 2021 Feb 19.

No abstract available.

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Chaves C, Bruinstroop E, Refetoff S, et al. Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta. Thyroid. 2021;31(7):1127-1134doi: 10.1089/thy.2020.0651.
Chaves, C., Bruinstroop, E., Refetoff, S., Yen, P. M., & Anselmo, J. (2021). Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta. Thyroid : official journal of the American Thyroid Association, 31(7), 1127-1134. https://doi.org/10.1089/thy.2020.0651
Chaves, Carolina, et al. "Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta." Thyroid : official journal of the American Thyroid Association vol. 31,7 (2021): 1127-1134. doi: https://doi.org/10.1089/thy.2020.0651
Chaves C, Bruinstroop E, Refetoff S, Yen PM, Anselmo J. Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta. Thyroid. 2021 Jul;31(7):1127-1134. doi: 10.1089/thy.2020.0651. Epub 2021 Feb 19. PMID: 33353459; PMCID: PMC8290309.
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Pathogenesis of multinodular goiter in elderly XB130 deficient mice: alteration of thyroperoxidase affinity with iodide and hydrogen peroxide.

Thyroid : official journal of the American Thyroid Association

Cho HR, Sugihara J, Shimizu H, Xiang YY, Bai XH, Wang Y, Liao XH, Asa SL, Refetoff S, Liu M.
PMID: 34915750
Thyroid. 2021 Dec 17; doi: 10.1089/thy.2021.0458. Epub 2021 Dec 17.

BACKGROUND: Multinodular goiter (MNG) is the most common disorder of the thyroid gland. Aging and genetic mutations that impair thyroid hormone production have been implicated in the development of MNG. XB130 is an adaptor/scaffold protein predominantly expressed in the...

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Cho HR, Sugihara J, Shimizu H, et al. Pathogenesis of multinodular goiter in elderly XB130 deficient mice: alteration of thyroperoxidase affinity with iodide and hydrogen peroxide. Thyroid. 2021;doi: 10.1089/thy.2021.0458.
Cho, H. R., Sugihara, J., Shimizu, H., Xiang, Y. Y., Bai, X. H., Wang, Y., Liao, X. H., Asa, S. L., Refetoff, S., & Liu, M. (2021). Pathogenesis of multinodular goiter in elderly XB130 deficient mice: alteration of thyroperoxidase affinity with iodide and hydrogen peroxide. Thyroid : official journal of the American Thyroid Association, . https://doi.org/10.1089/thy.2021.0458
Cho, Hae-Ra, et al. "Pathogenesis of multinodular goiter in elderly XB130 deficient mice: alteration of thyroperoxidase affinity with iodide and hydrogen peroxide." Thyroid : official journal of the American Thyroid Association vol. (2021). doi: https://doi.org/10.1089/thy.2021.0458
Cho HR, Sugihara J, Shimizu H, Xiang YY, Bai XH, Wang Y, Liao XH, Asa SL, Refetoff S, Liu M. Pathogenesis of multinodular goiter in elderly XB130 deficient mice: alteration of thyroperoxidase affinity with iodide and hydrogen peroxide. Thyroid. 2021 Dec 17; doi: 10.1089/thy.2021.0458. Epub 2021 Dec 17. PMID: 34915750.
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TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews.

European thyroid journal

Shaki D, Eskin-Schwartz M, Hadar N, Bosin E, Carmon L, Refetoff S, Hershkovitz E, Birk OS, Haim A.
PMID: 34981755
Eur Thyroid J. 2021 Nov 01; doi: 10.1530/ETJ-21-0072. Epub 2021 Nov 01.

OBJECTIVE: Bi-allelic loss-of-function mutations in TSHB, encoding the beta-subunit of TSH, cause congenital non-goiterous hypothyroidism. Homozygosity for the TSHB p.R75G variant, previously described in South Asian individuals, does not alter TSH function, but abrogates its detection by some immune-detection-based...

Cite
Shaki D, Eskin-Schwartz M, Hadar N, et al. TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews. Eur Thyroid J. 2021;doi: 10.1530/ETJ-21-0072.
Shaki, D., Eskin-Schwartz, M., Hadar, N., Bosin, E., Carmon, L., Refetoff, S., Hershkovitz, E., Birk, O. S., & Haim, A. (2021). TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews. European thyroid journal, . https://doi.org/10.1530/ETJ-21-0072
Shaki, David, et al. "TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews." European thyroid journal vol. (2021). doi: https://doi.org/10.1530/ETJ-21-0072
Shaki D, Eskin-Schwartz M, Hadar N, Bosin E, Carmon L, Refetoff S, Hershkovitz E, Birk OS, Haim A. TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews. Eur Thyroid J. 2021 Nov 01; doi: 10.1530/ETJ-21-0072. Epub 2021 Nov 01. PMID: 34981755.
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Showing 1 to 12 of 28 entries