What is the initial workup for a patient presenting with a goiter (enlargement of the thyroid gland)?

From the Guidelines

The initial workup for a patient presenting with a goiter should begin with a comprehensive history and physical examination, followed by thyroid function tests and imaging to confirm the diagnosis and document the size and extent of the goiter, as recommended by the American College of Radiology 1. The comprehensive history should focus on symptoms of hyper- or hypothyroidism, family history of thyroid disorders, radiation exposure, iodine intake, and medication use.

• The physical exam should assess the size, consistency, and tenderness of the goiter, presence of nodules, and signs of compression such as stridor or dysphagia.
• Thyroid function tests, including TSH, free T4, and free T3, are essential to evaluate the functional status of the thyroid gland.
• Imaging, such as ultrasound, is crucial to evaluate the gland's structure, identify nodules, and determine if the goiter is diffuse or nodular, as stated in the acr appropriateness criteria^® thyroid disease study 1. Additional tests may include thyroid antibodies (anti-TPO, anti-thyroglobulin) to assess for autoimmune thyroid disease, particularly if Hashimoto's thyroiditis or Graves' disease is suspected.
• If nodules larger than 1-1.5 cm are found, fine-needle aspiration biopsy should be performed to rule out malignancy.
• In cases of suspected hyperthyroidism, a radioactive iodine uptake scan may help determine the cause. This systematic approach helps determine the underlying cause of the goiter, which could range from iodine deficiency to autoimmune disorders, malignancy, or medication effects, and guides appropriate treatment decisions, with the goal of minimizing morbidity, mortality, and improving quality of life 1.

From the Research

Initial Workup for Goiter

The initial workup for a patient presenting with a goiter (enlargement of the thyroid gland) involves several steps:

• Thyroid stimulating hormone (TSH) is the appropriate first test for all patients with goiter, as it can indicate hyperthyroidism, euthyroidism, or hypothyroidism 2, 3, 4
• If the TSH level is low, a radionuclide scan may be helpful to determine the cause of the goiter 2
• Thyroid ultrasound has become an essential part of the physical examination and should be performed in all patients with goiter to determine the presence of nodules and to guide biopsies if necessary 2
• Measurement of free thyroxine (FT4) and free triiodothyronin (FT3) may also be necessary to assess thyroid function, especially if the TSH level is abnormal 3, 5, 4
• Detection of serum autoantibodies against thyroid tissues, such as TgAb and TPOAb, may be helpful in diagnosing autoimmune thyroid diseases like Hashimoto's disease and Graves' disease 3

Additional Tests

Additional tests that may be necessary in the workup of a patient with goiter include:

• Fine needle aspiration cytology (FNAC) for histologic examination of thyroid nodules 5
• Thyroid scintigraphy to determine the etiology of hyperthyroidism or to evaluate the presence of toxic nodules 6
• Measurement of thyrotropin-receptor antibody (TRAb) to diagnose and follow patients with Graves' disease 3, 6
• Ultrasonography, magnetic resonance imaging, and positron emission tomography to evaluate the thyroid gland and surrounding structures 5

Clinical Presentation

The clinical presentation of a patient with goiter may include:

• Compressive symptoms such as cough or dysphagia due to the enlarged thyroid gland 2
• Symptoms of hypothyroidism or hyperthyroidism, such as fatigue, weight gain or loss, or palpitations 2, 6
• A diffusely enlarged thyroid gland, stare, or exophthalmos in patients with Graves' disease 6
• Symptoms from local compression of structures in the neck by the thyroid gland, such as dysphagia, orthopnea, or voice changes in patients with toxic nodules 6