Goitre

Enlarged palpable thyroid gland, which moves on swallowing

Aetiology

  • May be a benign disorder but is also associated with several thyroid diseases, including iodine deficiency, Hashimoto’s thyroiditis, and some of the causes of hyperthyroidism

Pathophysiology

  • Reduced T3/T3 production causes a rise in TSH, stimulating gland enlargement
  • This may maintain euthyroid state or if compensation fails there will be goitrous hypothyroidism

Diffuse goitre

Aetiology

  • Physiological goiter - puberty, pregnancy
  • Autoimmune thyroid disease - Hasimoto's thyroiditis, Grave's disease thyrotoxicosis
  • Endemic - iodine deficiency +/- ingestion of goitrogens (chemicals which exaggerate the effects of iodine deficiency)
  • Inflammation - acute (de Quervain's) thyroiditis
  • Sporadic
    • 4:1 females, usually during puberty/YA
    • Most cases have no clear cause
    • Some associated with ingestion of substances limiting T3/T4 production or inborn errors of metabolism (dyshormonogenesis)

Clinical presentation

  • Entire thyroid gland swells and is smooth to the touch
  • Usually euthyroid, if not may be symptoms of hyper/hypothyroidism
  • Present with mass effects
    • Cosmetic
    • Compression of the trachea → exertional dyspnoea and, in severe cases, stridor or wheezing
    • Compression of the oesophagus  → dysphagia
  • In children dyshormonogenesis may cause cretinism

Investigations

  • Thyroid function tests - T3/T4 normal, TSH high or upper limit of normal

Management

  • Treat underlying cause if appropriate (iodine deficiency, autoimmune thyroid disease)
  • Usually no further treatment needed (unless causing obstructive symptoms - surgery)

Multi-nodular goitre

Aetiology

  • Develops from a long-standing simple sporadic goitre

Pathophysiology

  • Variation of response of follicular cells to external stimuli - recurrent hyperplasia and involution
  • Mutations of TSH signalling pathway
  • There will be a varying degree of fibrosis, haemorrhage and calcification

Clinical presentation

  • Irregular enlarged thyroid due to nodule formation - thyroid feels bumpy on palpation
  • Enlargement can be impressive
  • Presents with mass effects
  • Can be inactive or toxic
    • Toxic multinodular goitres are responsible for ~35% of cases of hyperthyroidism
    • Toxic nodules have an increased risk of malignant transformation

Investigations

  • Thyroid function tests - TSH usually normal or slightly suppressed, fT3/T4 normal if inactive or increased if toxic
  • US scan - sensitive method for delineating nodules and can demonstrate whether they are cystic or solid
  • FNA - to assess cancer risk for prominent palpable and suspicious nodules
  • CT scan - may detect retrosternal extension and tracheal compression in patients with a very large goitre or clinical symptoms
  • Thyroid isotope scan - toxic or non-toxic
  • Flow volume loops if considering other potential causes of breathlessness

Management

  • Most can leave alone
  • Antithyroid drugs if toxic
  • Radioactive iodine if significant hyperthyroid
  • Surgery if structural problem or significant retrosternal extension