Guest Author - Jim Lowrance

The term “Congenital Hypothyroidism”, is one describing infants born with under-functioning thyroid glands. Babies born with this condition are usually diagnosed when undergoing blood tests called “Newborn Screenings” which are done to determine the health of newborns. Some babies may display symptoms of being ill with congenital hypothyroidism while others may appear healthy but their low functioning thyroid is discovered through blood tests. If symptoms do occur, they may include constipation, jaundice (yellowing of the skin), lack of apatite, difficulty breathing, sleeping more than is normal and enlargement of the head, tongue or stomach.

The condition is not common, affecting an estimated 1 in 3,000 or 4,000 newborns in industrialized countries and is twice as common in girls, than boys. Estimates are not as easily determined for less developed countries where blood testing of newborns is not as accessible.

For most infants, a cause of congenital hypothyroidism cannot be determined but in some cases heredity of the disease may be suspected. Some infants may be affected by medications the mother is taking, including those for an overactive thyroid gland (hyperthyroidism). These type medications are called anti-thyroid drugs, designed to slow production of thyroid hormone in the mother but may also slow thyroid hormone production in their newborns. Babies born prematurely are also at higher risk for congenital hypothyroidism.

It is important for newborns to begin treatment for congenital hypothyroidism with thyroid hormone replacement therapy because a delay in treating their low thyroid hormone production can cause a slowing of their physical and mental development. The risks of delayed treatment include mental retardation and physical defects involving the muscles, bones and teeth. This, points to the great importance in newborn blood screening because delay in treatment can result in permanent damage to babies at a critical time of development following their birth.

Some newborns will recover from congenital hypothyroidism, after short term treatment and their own thyroid glands will begin to function normally afterward. Other newborns may require long term or lifelong treatment, especially those who are born with damaged, underdeveloped or missing thyroid glands.