Causes of congenital goiter

Disorder	Antibody tests	Clinical clues or tests
Hypothyroid infant (TSH elevated, free T4 low or normal)
Maternal Graves disease with prenatal antithyroid drug treatment	TSI or TBII positive*	Maternal history of antithyroid drugs during pregnancy
Inborn errors of thyroid hormone production (dyshormonogenesis)	Negative	Ultrasonography, radionucleotide imaging, molecular testing (SLC5A5, TPO, DUOX2, DUOXA2, SLC26A4, TG, IYD)
Excess iodine exposure to mother or infant	Negative	History of exposure, tests of iodine status
Severe maternal iodine deficiency	Negative	Mother from a population with high prevalence of iodine deficiency^¶
Hyperthyroid infant (TSH low, free T4 elevated or normal)
Neonatal Graves disease	TSI or TBII positive*	Maternal history of Graves disease before or during the pregnancy, or maternal history of acquired hypothyroidism, likely caused by autoimmune thyroid disease.
Activating mutation of the TSH-receptor (congenital nonimmune hyperthyroidism)	TSI or TBII negative	May have family history of hyperthyroidism and goiter
McCune-Albright syndrome	TSI or TBII negative	Café-au-lait spots, gonadotropin-independent sexual precocity, polyostotic fibrous dysplasia.
Euthyroid infant (TSH and free T4 normal)
Thyroid hemiagenesis	Negative	Incidental finding on ultrasonography
Thyroglossal duct cysts	Negative	Midline neck mass on physical examination and/or ultrasonography
Thyroid neoplasm	Negative	Neck mass over thyroid cartilage; ultrasonography will show dimensions and echo characteristics

TSH: thyroid-stimulating hormone; T4: thyroxine; TSI: thyrotropin-stimulating immunoglobulin (TSH receptor-stimulating antibody); TBII: thyrotropin-binding inhibitory immunoglobulins; SLC5A5: sodium/iodide symporter gene (also known as NIS); TPO: thyroid peroxidase gene; DUOX2: dual oxidase 2 gene; DUOXA2: dual oxidase accessory protein; SLC26A4: solute carrier family 26, member 4 gene (pendrin); TG: thyroglobulin gene; IYD: iodotyrosine deiodinase 1 gene (also known as DEHAL1).
* For newborn infants born to mothers with Graves disease, thyroid function represents a balance of the TSI and effects of the maternal antithyroid drug. If the baby is hypothyroid, the antithyroid drug effect is predominant. If the infant is hyperthyroid (known as neonatal Graves disease), the TSI effect is predominant. This balance may change during the first days or weeks of life.
¶ Data about regional risk for iodine deficiency disorders are available from the Iodine Global Network website.

Graphic 71540 Version 4.0

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Causes of congenital goiter