Congenital hypothyroidism: assessment with ultrasound

To determine the clinical utility of cervical ultrasound in patients suspected of having congenital hypothyroidism.

Thirty-seven patients with suspected congenital hypothyroidism underwent ultrasound and scintigraphic evaluation of the thyroid anatomy, morphology, and function. The ultrasound findings and laboratory data were compared with the standard-of-reference scintigraphic findings and laboratory data for diagnosing specific causes in those patients, and prognosis was correlated with the ultrasound findings.

Ultrasound was not reliable for detecting ectopia (n = 8) or differentiating ectopia from aplasia (n = 1). Ultrasound showed ectopia in six (four in the mouth floor and two in the tongue base) of eight cases (75% sensitivity). Ultrasound did not show one ectopia in the floor of mouth because its echogenicity was similar to that of surrounding tissues. A second ectopia, in the hypopharynx, was missed because of hindrance of the laryngeal air. Radioactive iodine uptake and scintigraphy was required for the patients with enlarged glands in the normal place to differentiate dyshormonogenesis from other categories. Specific causes were diagnosed correctly with ultrasound findings and laboratory data alone in all of the 20 patients who had hemiaplasia or small or normal-size glands in the normal location. Incidences of heterogeneity and hypoechogenicity of the thyroid gland in patients with prolonged clinical course (whose replacement therapy or follow-up extended for more than 1 year) were significantly higher than those in patients with short clinical course.

Ultra-sound can obviate the need for scintigraphy in more than half (54%) of patients with possible congenital hypothyroidism. Ultrasound has a potential to predict prognosis of these patients.