A kind of born with congenital goiter of thyroid enlargement, with or without hypothyroidism rare thyroid disease. Often family history and the history of consanguineous marriage. Autosomal recessive inheritance.
The first type of iodine transport impairment may be secondary to iodine necessary for running the synthesis of cell surface proteins change.
Type II mechanism by the thyroid iodide caused some of defects. One of which is necessary for the synthesis of organic iodine peroxidase defect, resulting in goiter of cretinism. Another defect is autosomal recessive genetic disease that affects formation of hydrogen peroxide and the DMC and the (Penderd syndrome), patients with normal thyroid function was normal, so deafness is not secondary to hypothyroidism. Type 3 defects and abnormalities peroxide, but can generate sufficient compensation effect, it is able to maintain normal thyroid function.
The third type of congenital goiter found in a dehalogenase defect patients. Although the exact biochemical abnormalities is unknown, but children in single-thyroglobulin iodine of iodine tyrosine and tyrosine deiodinase 2 have all or part of the obstacle course.
Type IV congenital goiter thyroglobulin synthesis defect.
Goiter can cause congenital tracheal anomalies or oppression, thereby endangering the breathing. Although various types and subtypes of the different treatment methods, but with thyroid-related hypothyroidism is often treated with thyroxine. Airway pressure and surgical treatment of hyperthyroidism can be.