Congenital goiter is a diffuse or nodular enlargement of the thyroid gland present at birth. Thyroid hormone secretion may be decreased, increased, or normal. Diagnosis is by confirming thyroid size with ultrasonography. Treatment is thyroid hormone replacement when hypothyroidism is the cause. Surgery is indicated when breathing or swallowing is impaired.
Congenital goiters may be caused by dyshormonogenesis (abnormal thyroid hormone production), transplacental passage of maternal antibodies, or transplacental passage of goitrogens. Some causes are hereditary.
Genetic defects in thyroid hormone production result in increased levels of thyroid-stimulating hormone (TSH), which in turn can cause congenital goiter. Goiter is present in about 15% of cases of congenital hypothyroidism (see Congenital hypothyroidism). There are a number of gene abnormalities that cause dyshormonogenesis; they commonly have an autosomal recessive form of inheritance, and many are single-gene defects.
Dyshormonogenesis can result from a defect in any of the steps in thyroid hormone biosynthesis, including
Children with Pendred syndrome have mild hypothyroidism or euthyroidism, goiter, and sensorineural hearing loss due to a genetic abnormality of a protein (pendrin) involved in iodine transport and cochlear function. Although Pendred syndrome is caused by a genetic defect, it rarely manifests in the newborn period.
Transplacental passage of maternal antibodies:
Women with an autoimmune thyroid disorder produce antibodies that may cross the placenta during the 3rd trimester. Depending on the disorder, the antibodies either block TSH receptors, causing hypothyroidism, or stimulate them, causing hyperthyroidism. Typically, in affected infants, the changes in hormone secretion and the associated goiter resolve spontaneously within 3 to 6 mo.
Transplacental passage of goitrogens:
Goitrogens such as amiodarone or antithyroid drugs (eg, propylthiouracil, methimazole) can cross the placenta, sometimes causing hypothyroidism and rarely causing goiter.
Symptoms and Signs
The most common manifestation is firm, nontender enlargement of the thyroid. Enlargement is most often diffuse but can be nodular. It may be noticeable at birth or detected later. In some patients, enlargement is not directly observable, but continued growth can cause deviation or compression of the trachea, compromising breathing and swallowing. Many children with goiters are euthyroid, but some present with hypothyroidism (see Hypothyroidism in Infants and Children) or hyperthyroidism (see Hyperthyroidism in Infants and Children).
If the diagnosis is suspected, thyroid size is typically assessed by ultrasonography. Thyroxine (T4) and TSH are measured.
Hypothyroidism is treated with thyroid hormone. Goiters that compromise breathing and swallowing can be treated surgically.
Last full review/revision October 2014 by Andrew Calabria, MD
Content last modified October 2014