Thyroglobulin Gene Mutation with Cold Nodule on Thyroid Scintigraphy. (3rd June 2012)

• Record Type: Journal Article
• Authors: Kahara, Toshio; Igarashi, Noboru; Hishinuma, Akira; Nakanishi, Yuko; Uchiyama, Akio; Miwa, Atsuo; Ishizawa, Shin; Yamamoto, Yutaka; Noto, Hirofumi; Sumiya, Hisashi; Ishikura, Kazuhide; Usuda, Rika; Iida, Hiroyuki
• Other Names: Grüning T. Academic Editor.; Islam N. Academic Editor.
• Is Part Of: Case reports in endocrinology. Volume 2012(2012)
• Publication Date: 2012-06-03
• Subjects: Endocrinology -- Periodicals; Endocrinology -- Case studies -- Periodicals; Endocrine glands -- Diseases -- Periodicals; Endocrinology; Endocrine System Diseases; Endocrine glands -- Diseases; Endocrinology; Electronic journals; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 616.4
• DOI: 10.1155/2012/280319
• Languages: English
• ISSNs: 2090-6501

Abstract

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.