Abstract
We have studied 17 boys and 11 girls (7 pairs of siblings) with goiter over a period of 2–15 yrs. Methods : In all patients, 131I-upfrake, PBI131, CR, SCNK discharge, PBI, BEI or T4, column chromatograms of radioiodinated aminoacids in serum have been performed; in some, chromatograms have been done also in thyroid tissue and urine.
Based on laboratory data, 5 groups have been formed. Although synthesis of thyroid hormones is blocked in all enzyme defects, the course of the disease is variable but characteristic for each group : 1) in 7 of 8 children with complete peroxydase defect, brain damage and idiocy developed despite thyroid therapy beginning shortly after birth. 2) 4 patients with Pendred syndrome were euthyroid and had small goiters; of 2 sisters with the same clinical picture, one showed the typical I131 discharge whereas the other one had a normal SCNK test. 3)9 patients with coupling defect had goiters around the age of 2 yrs and continuously increased in size inspite of thyroid therapy. 4) 3 children with dehalogenase defect were born with goiters; hypothyroidism developed slowly. In 2 of them goiters had disappeared and laboratory and clinical findings became normal without therapy 2 yrs after compulsory iodination of salt in Argentina. 5) In 4 children, the enzyme defect was not established. Goiter and hypothyroidism appeared around 11 months. Thyroid therapy was very successful.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Iorcansky, S., Altschuler, N., Bergadá, C. et al. GOITER DUE TO CONGENITAL DYSHORMOGENESIS : FOLLOW UP STUDY IN 28 CHILDREN. Pediatr Res 9, 685 (1975). https://doi.org/10.1203/00006450-197508000-00110
Issue Date:
DOI: https://doi.org/10.1203/00006450-197508000-00110