Home > Encyclopedia of Genetic Disorders > Congenital hypothyroid syndrome

Definition

Congenital hypothyroid syndrome is a condition in which a child is born with a deficiency in thyroid gland activity or thyroid hormone levels.

Description

The thyroid gland is a small gland in the front of the neck that secretes thyroid hormones called thyroxine (T4) and triiodothyronine (T3) into the bloodstream. Some of the T4 is converted into T3 by the liver and kidney. These thyroid hormones help regulate a great number of processes. A deficiency in the level of these hormones can affect the brain, heart, muscles, skeleton, digestive tract, kidneys, reproductive function, blood cells, other hormone systems, heat production, and energy metabolism.

In most cases of congenital hypothyroidism, the thyroid gland is either completely absent or severely under-developed....