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Congenital hypothyroidism due to thyroid ectopy not detected in neonatal screening - case report
Anna Stępniewska1, Małgorzata Wójcik1, Jerzy B Starzyk1
1Department of Paediatric and Adolescent Endocrinology, Chair of Paediatrics, Paediatric Institute, Jagiellonian University Medical College, Krakow, Poland.
Insights
Congenital hypothyroidism (CH) screening effectively prevents developmental issues. However, a case of ectopic thyroid was missed by newborn screening, highlighting the need for further diagnostic imaging when results are uncertain.
Area of Science:
- Endocrinology
- Neonatal screening
- Pediatric diagnostics
Background:
- Newborn screening for congenital hypothyroidism (CH) is crucial for preventing neurodevelopmental and physical sequelae.
- Standard CH screening relies on TSH measurements in dried blood spots.
Observation:
- A 3-month-old infant with an ectopic submandibular thyroid gland was initially missed by newborn screening.
- The infant presented with subclinical hypothyroidism confirmed by elevated TSH (26.3 µIU/ml) and normal FT4 (14.7 pmol/l).
Findings:
- Ultrasonography and scintigraphy confirmed ectopic thyroid tissue in the sublingual area.
- The initial dried blood spot TSH measurement failed to detect this ectopic thyroid presentation.
Implications:
- Diagnostic challenges can arise with ectopic thyroid glands, potentially leading to missed diagnoses in newborn screening.
- Ultrasound and scintigraphy are vital supplementary diagnostic tools for suspected CH, especially with equivocal screening results.
Abstract:
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.
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