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Thyroglobulin Gene Mutation with Cold Nodule on Thyroid Scintigraphy
Joint Authors
Kahara, Toshio
Yamamoto, Yutaka
Noto, Hirofumi
Nakanishi, Yuko
Iida, Hiroyuki
Ishikura, Kazuhide
Usuda, Rika
Sumiya, Hisashi
Ishizawa, Shin
Uchiyama, Akio
Miwa, Atsuo
Igarashi, Noboru
Hishinuma, Akira
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-06-03
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Kahara, Toshio& Igarashi, Noboru& Hishinuma, Akira& Nakanishi, Yuko& Uchiyama, Akio& Miwa, Atsuo…[et al.]. 2012. Thyroglobulin Gene Mutation with Cold Nodule on Thyroid Scintigraphy. Case Reports in Endocrinology،Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-459890
Modern Language Association (MLA)
Kahara, Toshio…[et al.]. Thyroglobulin Gene Mutation with Cold Nodule on Thyroid Scintigraphy. Case Reports in Endocrinology No. 2012 (2012), pp.1-4.
https://search.emarefa.net/detail/BIM-459890
American Medical Association (AMA)
Kahara, Toshio& Igarashi, Noboru& Hishinuma, Akira& Nakanishi, Yuko& Uchiyama, Akio& Miwa, Atsuo…[et al.]. Thyroglobulin Gene Mutation with Cold Nodule on Thyroid Scintigraphy. Case Reports in Endocrinology. 2012. Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-459890
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-459890