ESPE Abstracts

Introduction: Multinodular goiter is an extremely rare condition in neonates and can account for tracheal airway compression.

Case report: A newborn girl presented immediately after birth with an inspiratory and expiratory stridor and a visible swelling in the neck. She was born term after an uneventful pregnancy with a birth weight of 3.26 kg. The mother had no known thyroid disease and had not used antithyroid or goitrogenic medication. She had a normal iodine containing diet throughout pregnancy. Ultrasonography and magnetic resonance imaging of the infant’s neck showed a diffusely enlarged homogeneous thyroid gland with a left lobe volume of 11 cm3 (reference range newborns 0.4-1.7 cm³) and right lobe volume of 5 cm3 with evident narrowing of the trachea (approximately 50% compression with a rest lumen of 1 mm). Serum TSH and FT4 concentrations were normal, indicating euthyroidism. TSH-receptor antibodies, measured five days after birth, were negative in both mother and child. However, thyroglobulin concentration was extremely high (1870 ng/ml (reference range 10-250)). Family history revealed that the paternal grandmother had hypothyroidism without goiter from the age of 37 years and the father of this grandmother hyperthyroidism at an unknown age. Both grandmothers of the father had breast cancer around 60 to 65 years. Subsequent family history (up to the 3rd degree) was negative for cancer. Because of severe airway obstruction a left hemithyroidectomy was performed nine days after birth. Pathological examination of the left hemithyroid showed multinodular hyperplasia without signs of malignancy. Two months after hemithyroidectomy levothyroxine was started because of repeatedly low FT4 with normal TSH (lowest FT4 11.6 pmol/l (reference range 12.0-28.3), TSH 2.45 mU/l) without other pituitary hormone abnormalities. A targeted next generation sequencing panel, including 58 genes associated with thyroid dysgenesis, thyroid dyshormonogenesis and central hypothyroidism, was performed in blood. Additionally, PTEN and DICER1 were analyzed in blood by sanger sequencing. No genetic abnormalities were detected. Genetic analysis in thyroid tissue is pending to detect possible somatic mutations. Eight and 17 months after hemithyroidectomy ultrasonography showed an increase in volume of the remaining right lobe to 14 and 22 cm³ respectively.

Conclusion: We report an infant with congenital multinodular goiter without thyroid dysfunction at birth. The goiter caused severe airway obstruction shortly after birth necessitating hemithyroidectomy. Congenital goiter may be encountered in neonates with congenital hypothyroidism due to dyshormonogenesis (e.g. iodine organification defects). Isolated congenital multinodular goiter without thyroid dysfunction is extremely rare.