Goiter, congenital

Figure 42-11. Model of iodide metabolism in the thyroid follicle. A follicular cell is shown facing the follicular lumen (top) and the extracellular space (at bottom). Iodide enters the thyroid primarily through a transporter (bottom left). Thyroid hormone synthesis occurs in the follicular space through a series of reactions, many of which are peroxidase-mediated. Thyroid hormones, stored in the colloid in the follicular space, are released from thyroglobulin by hydrolysis inside the thyroid cell. (Tgb, thyroglobulin MIT, monoiodotyrosine DIT, diiodotyro-sine Tj, triiodothyronine T4, tetraiodothyronine.) Asterisks indicate steps or processes that are inherited enzyme deficiencies which cause congenital goiter and often result in hypothyroidism.

Polypeptide hormonal dysfunctions, such as diabetes mellitus, familial goiter, pseudohypoparathyroidism, and congenital adrenal hyperplasia. 

Melvin GR, Aceto T Jr, Barlow J, Munson D, Wierda D. Iatrogenic congenital goiter and hypothyroidism with respiratory distress in a newborn. S D J Med 1978 31(10) 15-19. 

De Wolf D, De Schepper J, Verhaaren H, Deneyer M, Smitz J, Sacre-Smits L. Congenital hypothyroid goiter and amiodarone. Acta Paediatr Scand 1988 77(4) 616-8. 

Pathogenesis of congenital goiter and abnormally high levels of SPI and with mono- and diiodotyrosine in the serum. J. Clin. Endocrinol. Metabolism, 17, 817 (1957). With S. C. Werner, R. H. Mandl, and A. A. H. Kassenaar. 

Congenital goiter and neonatal hypothyroidism may occur if thiouracil drugs are administered during pregnancy (12). 

Fetal problems, including abortion, stillbirths, congenital anomalies, neurological cretinism. Goiter, hypothyroidism, impaired mental function, increased susceptibility to radiation. 

School-age children were examined in three cities in Northern Chile where levels of perchlorate in the water supply were undetectable, 5-7, and 100-120 ppb. No changes were found in hormone levels, prevalence of goiter between cities, congenital hypothyroidism, and clinical differences between children from the three different cities. 

Extensive work has been performed to assess neonatal thyroid functional status in communities in iodine-deficient parts of the country. KochupiUai et al. (1986) showed that the incidence of neonatal hypothyroidism varied from 7.5% to 13.3% in the highly endemic sub-Himalayan districts of Gonda, Gorakhpur and Deoria. In comparison, the incidence of neonatal hypothyroidism in Delhi was 0.6%, while coastal Kerala, which was not endemic for goiter, had a neonatal hypothyroidism incidence of 0.12%, comparable with the congenital hypothyroidism rates of 0.02—0.05% reported in iodine-sufficient countries. 

---