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Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model

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Thyroglobulin gene mutation with cold nodule on thyroid scintigraphy.

Toshio Kahara¹, Noboru Igarashi, Akira Hishinuma

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

Case Reports in Endocrinology

|August 31, 2012

Summary

Thyroglobulin gene mutations, though rare, can cause congenital hypothyroidism and are linked to thyroid cancer. This case highlights a patient with a thyroglobulin gene mutation presenting as a thyroid tumor.

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Area of Science:

Endocrinology
Genetics
Oncology

Background:

Thyroglobulin gene mutations are an uncommon cause of congenital hypothyroidism.
These mutations are also suspected to play a role in thyroid cancer development.
Clinical presentation of thyroglobulin gene mutations can be diverse, sometimes discovered incidentally in adults with goiter.

Purpose of the Study:

To report a case of congenital hypothyroidism due to a thyroglobulin gene mutation in a young adult.
To investigate the clinical, imaging, and pathological findings of a thyroid tumor in this context.
To discuss the implications for diagnosing and managing patients with thyroglobulin gene mutations and thyroid nodules.

Main Methods:

Case report of a 21-year-old Japanese male with congenital hypothyroidism.
Genetic analysis for thyroglobulin gene mutations (compound heterozygosity for Gly304Cys and Arg432X).
Thyroid ultrasonography, scintigraphy, and surgical pathology with immunohistochemistry (thyroglobulin, sodium iodide symporter).

Main Results:

The patient presented with an enlarged thyroid, undetectable serum thyroglobulin, and elevated TSH, diagnosed with compound heterozygous thyroglobulin gene mutations.
Imaging revealed a hypovascular cold nodule, but pathology showed a hyperplastic nodule with hemorrhage, not carcinoma.
Immunohistochemistry demonstrated strong cytoplasmic thyroglobulin but minimal sodium iodide symporter expression in the nodule.

Conclusions:

Thyroglobulin gene mutations can present with diverse clinical features, including thyroid tumors mimicking malignancy.
Low serum thyroglobulin in relation to TSH, in the absence of autoantibodies, warrants consideration of thyroglobulin gene mutations, especially with thyroid nodules.
This case underscores the importance of considering genetic factors in the evaluation of thyroid abnormalities.