Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene.

摘要

Congenital hypothyroidism because of thyroglobulin (TG) defciency is an autosomal recessive disease with a prevalence of 1:40,000-1:100,000 live births and characterized by goitre, lower serum TG, elevated-serum TSH with simultaneous low levels of circulating thyroid hormones and a negative perchlorate discharge test. Some patients might have normal to high triiodothyronine levels. Untreated patients with TG abnormalities can have an abnormal growth and development as well as mental retardation. Early diagnosis and treatment with L-thyroxine, however, as a consequence of the neonatal screening programs has resulted in normal development in nearly all cases.