Display options
Cite
Kahara T, Igarashi N, Hishinuma A, et al. Thyroglobulin gene mutation with cold nodule on thyroid scintigraphy. Case Rep Endocrinol. 2012;2012:280319doi: 10.1155/2012/280319.
Kahara, T., Igarashi, N., Hishinuma, A., Nakanishi, Y., Uchiyama, A., Miwa, A., Ishizawa, S., Yamamoto, Y., Noto, H., Sumiya, H., Ishikura, K., Usuda, R., & Iida, H. (2012). Thyroglobulin gene mutation with cold nodule on thyroid scintigraphy. Case reports in endocrinology, 2012280319. https://doi.org/10.1155/2012/280319
Kahara, Toshio, et al. "Thyroglobulin gene mutation with cold nodule on thyroid scintigraphy." Case reports in endocrinology vol. 2012 (2012): 280319. doi: https://doi.org/10.1155/2012/280319
Kahara T, Igarashi N, Hishinuma A, Nakanishi Y, Uchiyama A, Miwa A, Ishizawa S, Yamamoto Y, Noto H, Sumiya H, Ishikura K, Usuda R, Iida H. Thyroglobulin gene mutation with cold nodule on thyroid scintigraphy. Case Rep Endocrinol. 2012;2012:280319. doi: 10.1155/2012/280319. Epub 2012 Jun 03. PMID: 22934199; PMCID: PMC3420384.
Copy Download .nbib Format: NLM
Share it on

Case Rep Endocrinol. 2012;2012:280319. doi: 10.1155/2012/280319. Epub 2012 Jun 03.

Thyroglobulin gene mutation with cold nodule on thyroid scintigraphy.

Case reports in endocrinology

Toshio Kahara, Noboru Igarashi, Akira Hishinuma, Yuko Nakanishi, Akio Uchiyama, Atsuo Miwa, Shin Ishizawa, Yutaka Yamamoto, Hirofumi Noto, Hisashi Sumiya, Kazuhide Ishikura, Rika Usuda, Hiroyuki Iida

Affiliations

  1. Department of Internal Medicine, Toyama Prefectural Central Hospital, 2-2-78 Nishinagae, Toyama, Toyama 930-8550, Japan.

PMID: 22934199 PMCID: PMC3420384 DOI: 10.1155/2012/280319

Abstract

Thyroglobulin gene mutation is a rare cause of congenital hypothyroidism, but thyroglobulin gene mutations are thought to be associated with thyroid cancer development. A 21-year-old Japanese man treated with levothyroxine for congenital hypothyroidism had an enlarged thyroid gland with undetectable serum thyroglobulin despite elevated serum TSH level. The patient was diagnosed with thyroglobulin gene mutation, with compound heterozygosity for Gly304Cys missense mutation and Arg432X nonsense mutation. Ultrasonography showed a hypovascular large tumor in the left lobe that appeared as a cold nodule on thyroid scintigraphy. He underwent total thyroidectomy, but pathological study did not reveal findings of thyroid carcinoma, but rather a hyperplastic nodule with hemorrhage. Strong cytoplasmic thyroglobulin immunostaining was observed, but sodium iodide symporter immunostaining was hardly detected in the hyperplastic nodule. The clinical characteristics of patients with thyroglobulin gene mutations are diverse, and some patients are diagnosed by chance on examination of goiter in adults. The presence of thyroid tumors that appear as cold nodules on thyroid scintigraphy should consider the potential for thyroid carcinoma, if the patient has relatively low serum thyroglobulin concentration in relation to the degree of TSH without thyroglobulin autoantibody.

References

  1. Thyroid. 2005 Sep;15(9):1079-84 - PubMed
  2. J Clin Endocrinol Metab. 1999 Sep;84(9):3228-34 - PubMed
  3. J Clin Endocrinol Metab. 2006 Aug;91(8):3100-4 - PubMed
  4. Mol Cell Endocrinol. 2010 Jun 30;322(1-2):44-55 - PubMed
  5. J Endocrinol. 2006 May;189(2):247-55 - PubMed
  6. J Clin Endocrinol Metab. 2010 Mar;95(3):1000-6 - PubMed

Publication Types