Congenital hypothyroidism due to thyroid ectopy not detected in neonatal 
screening – case report

Anna Stępniewska; Małgorzata Wójcik; Jerzy B. Starzyk

doi:10.5114/pedm.2022.118322

eISSN: 2083-8441
ISSN: 2081-237X

Pediatric Endocrinology Diabetes and Metabolism

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abstract:

Case report

Congenital hypothyroidism due to thyroid ectopy not detected in neonatal screening – case report

Anna Stępniewska

¹

,

Małgorzata Wójcik

¹

,

Jerzy B. Starzyk

¹

Department of Paediatric and Adolescent Endocrinology, Chair of Paediatrics, Paediatric Institute, Jagiellonian University Medical College, Krakow, Poland

Pediatr Endocrinol Diabetes Metab 2023; 29 (1): 53-56

DOI: https://doi.org/10.5114/pedm.2022.118322

Online publish date: 2023/04/06

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Newborn screening for congenital hypothyroidism (CH) has been highly effective in preventing devastating neurodevelopmental and physical sequelae in affected infants. We report a case 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 a neonatal 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.

keywords:

Congenital hypothyroidism due to thyroid ectopy not detected in neonatal screening – case report

Anna Stępniewska 1 , Małgorzata Wójcik 1 , Jerzy B. Starzyk 1

thyroid ultrasonography, hormone, submandibular thyroid gland, scintigraphy

Anna Stępniewska

¹

,

Małgorzata Wójcik

¹

,

Jerzy B. Starzyk

¹