In this study, all 3 affected individuals had clinical and biochemical criteria suggestive of congenital goiter associated with deficiency in the organification of iodide: presence of goiter, hypothyroidism, positive perchlorate discharge test, and high serum TG and TSH concentrations with simultaneous low serum TT4 concentrations (1,2).
A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.
Two distinct compound heterozygous constellation (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.
A new case of congenital goiter with hypothyroidism due to a homozygous p.
Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.