Background: While Cowden Syndrome (CS) patients are known to harbor a propensity for thyroid disease, the exact incidence, pathology, and surgical management of thyroid disease in CS have yet to be fully delineated. Methods: We perform a meta-analysis of the literature and present a representative case report. Results: Review of published journal articles yielded 554 citations that fulfilled the inclusion criteria with 95 articles meeting the inclusion and exclusion criteria. A total of 181 cases were subsequently analyzed. Of the 181 patients, there were 99 females (54.7%), 77 males (42.5%), and no gender was reported in 5 cases (2.8%). The age at presentation ranged from 3 days to 78 years with mean and median ages of 38 years and 39 years, respectively. Ninety-six patients (96/181, 53.0%) were reported to have thyroid disease. Thyroid abnormalities were most commonly found on examination prior to diagnosis (37/96, 38.5%). Surgical management of thyroid disease was performed in 80.2% (77/96) of patients with thyroid disease with total thyroidectomy being the most common operation reported (23/77, 29.9%). Thyroid pathology reported with CS patients included goiter (39/96, 40.6%), adenoma (24/96, 25%), unknown/unspecified pathology (8/96, 8.3%), follicular carcinoma (7/96, 7.3%), thyroiditis (7/96, 7.3%), papillary carcinoma (6/96, 6.3%), cancer (unknown type) (3/96, 3.1%), medullary carcinoma (1/96, 1%), and hyperthyroidism (1/96, 1%). Conclusions: CS is composed of a multitude of common findings. Given the high prevalence of thyroid disease and notable potential of malignancy, careful monitoring of thyroid disease in CS patients is imperative. CS patients most commonly present with goiter and require total thyroidectomy.
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