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31 G oiter
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and chest. [Medeiros-Neto G.Chapter 3. In: Surks MI, editor. Volume 1: Thyroid Diseases. 1 edition. Philadelphia: Current Medicine Group; 1999. (Korenman SG, editor. Atlas of Clinical Endocrinology). ISBN: 0-632-04397-0]
• Horner’s syndrome. Horner’s syndrome results when the goiter causes com­pression of the cervical sympathetic nerve supply to the eye. Horner’s syn­drome is rare, and it is especially rarely caused by goiter. The classic triad of Horner’s consists of (all on the affected side);
• Miosis (constricted pupil).
• Partial ptosis, drooping eyelid from partial paralysis of the superior tarsal
muscle.
• Hemifacial anhidrosis, loss of sweating on the affected half of the face.
Photograph of the eyes showing the left ptosis and miosis of Horner’s syndrome. [Mutalib M, Vandervelde C, Varghese A, Sallomi DF, Silva P de, Casey JMH, Howlett DC.Horner’s syndrome secondary to asymptomatic pneumothorax in an adolescent. Eur J Pediatr. 2006 Sep 19;166(5):507–8.] Caption from original

Primary Differential Considerations

• Patients who present with an exam consistent with goiter should be also be evaluated for other possible diagnoses, including:
• Other thyroid pathology, such as nodules, thyroiditis, or malignancy
• Parathyroid cyst or malignancy
• Lipoma or broma
• Branchial cleft cyst or cystic hygroma
458
C. J. Rees et al.
History andPhysical Exam
Findings That Conrm Diagnosis
• The diagnosis can be conrmed by the direct palpation of the goiter. A goiter can usually be distinguished from other anterior neck masses (such as fatty tissue, redundant skin, etc.) as the thyroid will go up and down with swallow­ing. It is often helpful to ask the patient to swallow a sip of water and just observe the anterior neck for this up and down motion.
Diffuse goiter: Hashimoto’s thyroiditis [Gharib H.Chapter 4. In: Surks MI, editor. Volume 1: Thyroid Diseases. 1 edition. Philadelphia: Current Medicine Group;
1999. (Korenman SG, editor. Atlas of Clinical Endocrinology). ISBN: 0-632-04397­0] Caption adapted from original
Large goiter in a 57-year-old man. [Giovanella L.Nontoxic Multinodular Goiter. In: Giovanella L, Treglia G, Valcavi R, editors. Atlas of Head and Neck Endocrine Disorders [Internet]. Cham: Springer International Publishing; 2016 [cited 2015 Dec 17]. p. 67–72. Available from: http://link.springer.com/10.1007/978-3-319-
22276-9_10] Caption adapted from original
31 G oiter
• In patients with short and thick necks it can be difcult to adequately palpate the thyroid. These patients may require some form of imaging to be certain a goiter is present.

Factors That Suggest Diagnosis

• Patients with a family history of thyroid disease, recent immigrants from areas of the world considered iodine-decient, those with a history of head and neck irradiation, or other radiation exposure, should be considered to be at higher risk for goiter.
• All patients in whom the diagnosis is being considered should be directly questioned about the presence of hyper- or hypothyroid symptoms, and for the presence or absence of obstructive symptoms.
• The presence of a substernal thyroid can be suggested by:
• The inability to directly palpate the inferior thyroid margin on either side.
• Pemberton’s maneuver. In this provocative physical exam test, the exam-
iner holds the patient’s arms directly above the head for about one minute. This maneuver forces the thyroid into the thoracic inlet and can exacerbate obstructive symptoms and signs. These include dyspnea, distension of the neck veins, facial ushing or cyanosis, or the inability to swallow.
459
Pemberton’s sign. The presence of a retrosternal goiter causes facial ushing and distended supercial veins. Mild ushing is noted with the arms by the side indicat­ing some baseline obstruction at rest. [Sharma N, Watkinson JC.Retrosternal Goiter.
460
In: Watkinson JC, Scott-Coombes DM, editors. Tips and Tricks in Endocrine Surgery [Internet]. London: Springer London; 2014 [cited 2015 Dec 17]. p.161–6. Available from: http://link.springer.com/10.1007/978-1-4471-2146-6_20] Caption
from original
• Kocher’s test. This is a physical examination maneuver that can be used to test for the presence of tracheal compression. In a positive test, compres­sion of the lateral lobes of the thyroid will produce stridor from tracheal compression.
C. J. Rees et al.

Factors That Exclude Diagnosis

• No historical or physical examination factors can adequately exclude the diagnosis.
• In patients with short and thick necks it can be difcult to adequately palpate the thyroid. These patients may require some form of imaging to be certain a goiter is either present or absent.

Ancillary Studies

Laboratory

• Thyroid stimulating hormone (TSH). All patients with goiter should have their thyroid function evaluated by measurement of their serum TSH.Serum TSH is often normal (euthyroid), but can also be low (suppressed) with hyper­thyroidism, and high with hypothyroidism.
• If the TSH is low, the serum-free thyroxine (T4) and total triiodothyronine
(T3) should also be measured to assess for an autonomously functioning multinodular goiter or Graves’ disease.
• If the TSH is high, free T4 should be measured as part of the evaluation for
likely Hashimoto’s disease.
• Thyroid peroxidase antibodies (TPO). Patients with Hashimoto’s (auto­immune) thyroiditis almost always have elevated TPO.Patients with goi­ter and hypothyroidism in the United States will most likely have Hashimoto’s thyroiditis as the cause of their goiter. This can be confirmed by elevated TPO.
• TSH receptor antibodies. These should be measured when Graves’ disease is being considered in the differential diagnosis of the goiter. This is mostly in the setting of a goiter associated with hyperthyroidism.
31 G oiter

Imaging

• Thyroid ultrasound should be obtained in most patients with goiter. Thyroid ultrasound can be used to evaluated thyroid size and volume; it can also help assess thyroid function. Thyroid ultrasound can also help in the evalu­ation of a goiter with features that may be consistent with thyroid cancer. These “worrisome” features include a rapidly growing goiter, asymmetric thyroid enlargement, rm consistency to focal areas of the thyroid, and tenderness to palpation.
• Chest x-ray. Substernal goiters are often found incidentally on a CXR being performed for other reasons. They can appear as a mass that causes tracheal deviation or narrowing, or as superior mediastinal widening, or a mediastinal mass.
461
Chest radiograph in substernal goiter. There is an anterior mediastinal mass, which was thought to be compatible with a substernal goiter. Note the deviation of the trachea to the left and the presence of a mass in the upper anterior medias­tinum. [Singer P.Chapter 12. In: Surks MI, editor. Volume 1: Thyroid Diseases. 1 edition. Philadelphia: Current Medicine Group; 1999. (Korenman SG, editor. Atlas of Clinical Endocrinology). ISBN: 0-632-04397-0] Caption adapted from
original
• CT scan. Goiters may be incidentally noted on CT scans of the neck and chest being performed for other reasons, but a CT chest can also be an important test in the evaluation of large cervical goiters and suspected substernal goiters. CT can help delineate the extent of the goiter. To fully evaluate the goiter, a CT of the neck and chest may be necessary.
462
C. J. Rees et al.
Computed tomography in substernal goiter. Note the predominantly right-sided mass with tissue to the left of the trachea as well. The trachea is not signicantly narrowed. [Singer P.Chapter 12. In: Surks MI, editor. Volume 1: Thyroid Diseases. 1 edition. Philadelphia: Current Medicine Group; 1999. (Korenman SG, editor. Atlas of Clinical Endocrinology). ISBN: 0-632-04397-0] Caption adapted from original
Substernal goiter Substernal goiter (SG) leading to signicant tracheal deviation and compression with symptomatic dyspnea on exertion[Wilhelm SM. Multinodular Goiter. In: Pasieka JL, Lee JA, editors. Surgical Endocrinopathies [Internet]. Cham:
31 G oiter
463
Springer International Publishing; 2015 [cited 2015 Dec 17]. p.57–63. Available from:
http://link.springer.com/10.1007/978-3-319-13662-2_11] Caption from original
Image from a computed tomography of a patient with a massive intrathoracic goiter. The goiter is clearly below the aortic arch[Rolighed L, Rønning H, Christiansen P.Sternotomy for substernal goiter: retrospective study of 52 operations. Langenbeck’s Archives of Surgery. 2015 Apr;400(3):301–6.] Caption from original
• Thyroid radionuclide imaging may be necessary to identify any nodules or areas of autonomous functioning within the thyroid.

Other

• Flow-Volume Loop. Any patient with symptoms or signs consistent with an obstructive goiter should have pulmonary function tests with a ow-volume loop. If another imaging study reports a tracheal diameter less than 10 mm, the patient should also have a ow-volume loop performed. A xed, mechanical obstruction in the trachea will show a blunted or “notched” ow-volume loop. A positive ow­volume loop may inuence treatment and suggest the need for surgery.
• Fine needle aspiration (FNA) biopsy. FNA biopsy may be necessary to evalu­ate suspicious areas of goiter, or suspicious nodules for cancer. Suspicious ndings include:
• Rapid growth of the goiter
• Pain or tenderness
• Asymmetry in the consistency of the thyroid on examination
464
C. J. Rees et al.

Special Populations

Age
• Goiter is most common in the middle-aged to older adult population. The incidence of goiter rises with age.
• Although rare, goiters can occur in infants and children. They can be congeni­tal or acquired.
• Congenital Goiter. Goiters can occur in infants from congenital causes.
Congenital goiters may not be evident at birth, but will usually develop over the rst several months of life. The causes of congenital goiter include:
• Inborn errors of thyroid hormone production
• Mother’s with Hashimoto’s or Graves’ can have transplacental transfer of maternal antibody leading to goiter
• Maternal ingestion of antithyroid drugs
• Inborn mutations of thyroid hormones and receptors
• Thyroid tumors
• Acquired Goiter. Acquired goiters in children follow a similar distribution as adults. In iodine-decient parts of the world, iodine-decient goiters are the most common cause. In areas of the world where iodine-deciency is uncommon, common causes of goiter include:
• Hashimoto’s Thyroiditis
• Graves’ Disease
• Colloid Goiter. This is a unique form of goiter that occurs in adolescent girls. The cause is unknown. Thyroid function is usually normal. It usually improves over time with no treatment.

Co-morbidities

• Goiters can occur in patients with multiple other co-morbid illnesses. Signicant cardiac and pulmonary disease can complicate the management of goiters. As one of the primary treatments for goiter may be surgical, patients with multiple co-morbid conditions may not be good candidates for surgery.
31 G oiter
Pitfalls inDiagnosis
Critical Steps Not toMiss
• It is critical to take a complete history, including a family history and expo­sure to radiation history, to help determine the cause for a goiter and to guide the appropriate work-up and treatment.
• It is critical to assess for a substernal goiter, by asking about obstructive symptoms, performing a thorough examination, and ordering appropriate imaging studies.

Mimics

• There are no signicant mimics of goiter.
• There are other causes of anterior neck masses, but thorough physical exam­ination, and/or an appropriate imaging study, can determine the etiology of the mass.

Time-Dependent Interventions

465
• Goiters are usually very slow-growing and can be dealt with over time.
• Substernal goiters may cause acute symptoms from tracheal compression. This can be due to continued growth of the thyroid, acute hemorrhage into a large nodule, or from acute swelling from thyroiditis. These symptoms usu­ally include dyspnea, associated with wheezing or stridor.
• In these situations, an adequate airway must be obtained. Temporary mea­sures can include humidied oxygen, positive pressure ventilation such as continuous positive airway pressure (CPAP), and use of heliox (a helium/ oxygen mixture). All of these are temporizing measures however, and a secure airway will need to be obtained. This usually requires the involvement of a surgeon with experience in these matters.
Overall Principles ofTreatment
• The treatment goals for goiters differ based upon the cause of the goiter, whether the goiter is symptomatic or asymptomatic, and whether the goiter is cervical or substernal.
466
• Goiters that are not associated with hyperthyroidism and are non-
obstructive (such as Hashimoto’s): The primary goals are to treat any underlying hypothyroidism, decrease the size of the goiter, and prevent further growth. If there is signicant hypothyroidism, treatment with thy­roid replacement hormone can decrease the size of the goiter. If the patient is asymptomatic, the goiter can be followed. If the goiter is large, surgery or radioiodine ablation (RIA) may be appropriate. Surgery is indicated for large goiters, especially those that are continuing to grow over time. RIA can be an alternative to surgery for those patients that are not good surgical candidates.
• Substernal (or cervical) Goiter with obstructive symptoms:
• Once obstructive symptoms occur, the patient requires treatment. There is a small incidence of spontaneous hemorrhage into an enlarged thy­roid. This can cause an acute increase in thyroid size leading to acute compression that can be fatal.
• The usual treatment is surgical resection of the thyroid gland.
• If the patient is unable or unwilling to have surgery, RIA can be considered.
• Asymptomatic Substernal Goiter:
• These patients can be observed over time for the development of obstructive symptoms.
• These patients can also be offered denitive surgical treatment.
• Early, denitive surgical treatment should be considered, for the follow­ing reasons:
C. J. Rees et al.
• Most goiters will continue to enlarge.
• Surgery will become more technically difcult as the goiter
enlarges.
• A signicant minority (up to 40%) of patients with asymptomatic
substernal goiter have abnormal ow-volume loops.
• There is a small risk of cancer developing in the goiter. The risk of
cancer developing in a goiter is about the same as the risk of cancer developing in any thyroid nodule.
• There is a small risk of acute hemorrhage into the thyroid with
potentially fatal acute airway obstruction.
• Patients are considered safe to observe, rather than to undergo surgery, when any of the following conditions is met:
• They have a normal ow-volume loop.
• The substernal component ends at or above the brachiocephalic vein.
• The patient is a poor surgical candidate.
• Patients being observed should be followed closely for the development of obstructive symptoms, and should have a CT scan every year until stability is documented.