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Congenital Goiter

By

Andrew Calabria

, MD, The Children's Hospital of Philadelphia

Last full review/revision Sep 2020| Content last modified Sep 2020
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Topic Resources

Congenital goiter is enlargement of the thyroid gland that is present at birth.

Locating the Thyroid Gland

Locating the Thyroid Gland

Causes of Congenital Goiter

Congenital goiters may be caused by the following:

  • Defective production of thyroid hormone

  • Antibodies from the mother that cross the placenta and affect the thyroid

  • Chemicals or drugs the mother takes in during the pregnancy (called goitrogens) that cross the placenta

The thyroid gland Overview of the Thyroid Gland The thyroid is a small gland, measuring about 2 inches (5 centimeters) across, that lies just under the skin below the Adam’s apple in the neck. The two halves (lobes) of the gland are connected... read more secretes thyroid hormone. Any thyroid gland disorder that decreases production of thyroid hormone causes the pituitary gland Overview of the Pituitary Gland The pituitary is a pea-sized gland that is housed within a bony structure (sella turcica) at the base of the brain. The sella turcica protects the pituitary but allows very little room for expansion... read more to secrete more thyroid-stimulating hormone (TSH). If a disorder prevents the thyroid gland from responding normally by increasing hormone output, the increased stimulation by TSH causes the thyroid gland to enlarge. There are many genetic abnormalities that decrease the thyroid gland's ability to produce thyroid hormone and cause congenital goiter.

Drugs such as amiodarone, propylthiouracil, and methimazole taken by the mother can cross the placenta and may rarely cause congenital goiter.

Symptoms of Congenital Goiter

The most common symptom of congenital goiter is firm enlargement of the thyroid. There is no tenderness. The entire gland may be enlarged or only portions of it. It may be noticeable at birth or detected later. If the enlargement continues, infants may have difficulty breathing and swallowing. Many infants with goiters have a normally functioning thyroid gland. However, some infants develop hypothyroidism or hyperthyroidism.

Diagnosis of Congenital Goiter

Treatment of Congenital Goiter

  • Sometimes hormone therapy

  • Surgery

Infants who have hypothyroidism are given replacement thyroid hormone therapy by mouth.

Goiters that cause breathing and swallowing difficulty can be treated surgically.

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