[Contributions of the measurement of TSH, T4 and thyroglobulin, of 99m Tc scintigraphy and of cervical ultrasonography to the early diagnosis of congenital hypothyroidism].

Over 10 years, extending from 1978, 200,000 newborns of the Champagne-Ardennes Region have been tested within the screening program for congenital hypothyroidism. Congenital hypothyroidism was diagnosed in 96 infants (28 boys, 68 girls): 73 thyroid dysgenesis (50 ectopic glands and 23 undetectable thyroid tissue) and 23 thyroid dyshormonogenesis (14 permanent and 9 transient defects). Our local frequency was 1/2,600, significantly higher than the French and European frequencies. There was a marked shortening of the age at diagnosis during the 10 year period (mean age: 45 days between 1978 and 1980, 18 days in 1987). The TSH measurement was found to be the most sensitive tool for the diagnosis. Scintigraphy and more recently ultrasonography were performed in order to characterize the anatomical variety. For the last year, the following protocol was used: high frequency ultrasonography at first, then 123I or 99 m Tc scintigraphy (using parallel colimator and digital acquisition) depending on whether the thyroid gland was seen on ultrasound or not. Treatment of thyroid dyshormonogenesis was withdrawn after 5 years for reassessment.