Wrodzona niedoczynność tarczycy z powodu ektopii nie wykryta w badaniach przesiewowych noworodków – opis przypadku

Abstract

Newborn screening for congenital hypothyroidism (CH) has been highly effective in preventing devastating neurodevelopmental and physical sequelae in affected infants. We report acase of an ectopic thyroid gland located in the submandibular area detected at the age of 3 months, which was missed by congenital hypothyroidism screening test based on twice-repeated TSH measurement in dried blood spots. The diagnosis of subclinical hypothyroidism was confirmed on the basis of blood test performed in the endocrine clinic: TSH 26.3 µIU/ml (N:<10 µIU/ml), with FT4 14.7 pmol/l (N: 10-25 pmol/l) and fT3 6.9 pmol/l (N: 3-8 pmol/l). Ultrasonography and scintigraphy revealed ectopically located thyroid tissue in the sublingual area. In the case of doubtful results of aneonatal screening test or in any case of suspected congenital hypothyroidism, the diagnosis should be supplemented with ultrasound examination of the neonate's neck and followed by scintigraphy if necessary.