Familial Occurrence of Congenital Hypothyroidism Due to Lingual Thyroid Gland

Abstract

Two sisters who presented with midline neck masses proved to be biochemically hypothyroid. Thyroid scintigraphy supplemented with perchlorate discharge testing showed lingual thyroid glands and ruled out the expected autosomal recessive organification defect. The related literature is reviewed.

Lingual Thyroid in Children: A Rare Clinical Entity

“…Laboratory studies should include thyroid function tests. Although rare reports of hyperthyroidism have been made, these tests most frequently indicate decreased thyroid function 17–21 . The T3 and T4 levels are usually lower, and the TSH and thyroglobulin levels are usually higher than normal.…”

“…Although rare reports of hyperthyroidism have been made, these tests most frequently indicate decreased thyroid function. [17][18][19][20][21] The T3 and T4 levels are usually lower, and the TSH and thyroglobulin levels are usually higher than normal. Because up to 70% of patients with lingual thyroid have no other functioning thyroid tissue, thyroid scintigraphy using either iodine-123 or technetium-99m pertechnetate is critical in influencing management.…”