Congenital goiter is enlargement of the thyroid gland that is present at birth.
The enlarged thyroid gland may produce too much thyroid hormone (hyperthyroidism), too little thyroid hormone (hypothyroidism), or, sometimes, a normal amount.
The diagnosis is based on ultrasonography and blood tests.
Treatment may include hormone therapy and sometimes surgery.
(For adults, also see Goiter.)
The thyroid gland is an endocrine gland located in the neck. Endocrine glands secrete hormones into the bloodstream. Hormones are chemical messengers that affect the activity of another part of the body. Thyroid hormone regulates the rate at which the body functions (metabolic rate).
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
Medications the mother takes during the pregnancy (called goitrogens) that cross the placenta
The thyroid gland secretes thyroid hormone. Any thyroid gland disorder that decreases production of thyroid hormone causes the pituitary gland 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.
Women who have certain thyroid disorders such as Graves disease sometimes produce antibodies that cross the placenta during pregnancy. These antibodies interact with the receptor for TSH and can cause the fetus to produce too much thyroid hormone (hyperthyroidism) or too little thyroid hormone (hypothyroidism). But in both cases, a goiter may result. In affected infants, the goiter typically resolves spontaneously within 3 to 6 months.
Symptoms of Congenital Goiter
The most common symptom of congenital goiter is firm and symmetric 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, the infant 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
Ultrasonography
Blood tests
If doctors suspect the infant has a goiter, they do ultrasonography to measure the size of the thyroid.
Tests are done to determine levels of thyroid hormones in the blood (see Thyroid function tests).
If doctors suspect the goiter is caused by a genetic abnormality, they may recommend the parents have genetic testing because people who have one affected child are at increased risk of having another.
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.
