A goiter is an enlarged thyroid gland. Goiters may be simple or multinodular, dyshormonogenetic, toxic, endemic, or composed of amyloid. Simple nontoxic goiters usually are sporadic but may be endemic in areas of iodine deficiency. Endemic goiters are uncommon in modern times, with the use of iodized table salt. In the United States and other nonendemic areas, sporadic nontoxic goiters affect approximately 5 % of the population, are more common in women, and rarely affect young children. Although the etiology of sporadic nontoxic goiter is unknown, it likely is multifactorial. It may be associated with medications such as lithium, aminoglutethimide, propylthiouracil, and perchlorate; certain substances and foods (cassava, aniline derivatives, thiocyanates, perchlorates, and cyanoglucosides); and disruption of the hypothalamic pituitary axis, resulting increase of thyroid stimulating hormone. It also may have a hereditary component, particularly in women. Goiters also may occur in Cowden syndrome (germline PTEN mutation). Goiters usually are slow growing and may be associated with compressive and obstructive symptoms of dyspnea, stridor, hoarseness, and dilated neck veins. Goiters are treated with thyroxine, radioactive iodine, and surgery. A new nodule or sudden increase in growth is worrisome for malignancy. In a surgical series of 270 goiters, 7.7 % of which were suspected of being malignant, malignancy was identified in 33 cases (12.2 %). Nineteen were classic papillary thyroid carcinomas, two were a follicular variant of papillary carcinoma, three were lymphomas, three were medullary carcinomas, three were anaplastic carcinomas, two were follicular carcinomas, and one was a Hurthle cell carcinoma. An Italian study identified carcinoma in 13.7 % of goiters. A meta-analysis of 14 studies found that multinodular goiters were associated with a lower risk of cancer than single nodules, but a subgroup analysis suggested this difference depends on the inclusion of studies outside the United States. Unlike sporadic goiters, dyshormonogenetic goiters may develop in childhood, often are associated with hypothyroidism, and usually are the result of an autosomal recessive defect in thyroid hormone synthesis. Pendred syndrome includes congenital goiters and congenital sensorineural deafness and accounts for 10 % of hereditary deafness. The Pendred syndrome gene (7q22-31.1) encodes pendrin, an iodide/choride transporter. Toxic multinodular goiters are associated with thyrotoxicosis, which may develop insidiously. An autonomously hyperfunctioning nodule in a multinodular goiter has been referred to as Plummer disease. Amyloid goiters present as diffuse thyroid enlargement or a mass lesion. Patients often are asymptomatic but may have compressive symptoms and usually are euthyroid. Amyloid goiter also may occur in primary systemic amyloidosis and occasionally secondary amyloidosis, but secondary amyloidosis usually shows only focal involvement rather than diffuse replacement of the gland.
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Brix TH, Kyvik KO, Hegedus L. Major role of genes in the etiology of simple goiter in females: a population-based twin study. J Clin Endocrinol Metab. 1999;84(9):3071–5.PubMedGoogle Scholar
Bignell GR, et al. Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer. Am J Hum Genet. 1997;61(5):1123–30.PubMedCentralPubMedCrossRefGoogle Scholar
Sakorafas GH, et al. Microscopic papillary thyroid cancer as an incidental finding in patients treated surgically for presumably benign thyroid disease. J Postgrad Med. 2007;53(1):23–6.PubMedCrossRefGoogle Scholar
Prades JM, et al. Multinodular goiter: surgical management and histopathological findings. Eur Arch Otorhinolaryngol. 2002;259(4):217–21.PubMedGoogle Scholar
Gandolfi PP, et al. The incidence of thyroid carcinoma in multinodular goiter: retrospective analysis. Acta Biomed. 2004;75(2):114–7.PubMedGoogle Scholar
Brito JP, et al. Prevalence of thyroid cancer in multinodular goiter versus single nodule: a systematic review and meta-analysis. Thyroid. 2013;23(4):449–55.PubMedCrossRefGoogle Scholar
Ghossein RA, Rosai J, Heffess C. Dyshormonogenetic goiter: a clinicopathologic study of 56 cases. Endocr Pathol. 1997;8(4):283–92.PubMedCrossRefGoogle Scholar
Kopp P. Pendred’s syndrome: identification of the genetic defect a century after its recognition. Thyroid. 1999;9(1):65–9.PubMedCrossRefGoogle Scholar
Borck G, et al. Mutations in the PDS gene in German families with Pendred’s syndrome: V138F is a founder mutation. J Clin Endocrinol Metab. 2003;88(6):2916–21.PubMedCrossRefGoogle Scholar
Hamed G, et al. Amyloid goiter. A clinicopathologic study of 14 cases and review of the literature. Am J Clin Pathol. 1995;104(3):306–12.PubMedGoogle Scholar