Newborn Metabolic Screening Program
What is it?
Congenital Hypothyroidism (CH) is a disease that is caused by
the under activity of the thyroid gland. This under activity results
in underproduction of thyroid hormones. These hormones play an
important role in proper body metabolism. In growing children
these hormones are essential for normal physical growth and mental
Although this disorder is detectable at birth, it is not an
inherited disorder. Hypothyroidism does not follow any type
of pattern as to whom it will affect and randomly affects infants
from almost every origin.
It is estimated that hypothyroidism will occur in 1 of every
3,000 births, making it one of the most common disorders detected
with newborn blood screening.
Clinical signs of hypothyroidism often do not appear until the
infants is 3-4 months of age, thus it is most likely that affected
infants will have already suffered irreversible brain damage
before signs of the disease begin to appear. Many times the
early diagnosis relies almost solely on the results of the newborn
screening. An affected infant may have prolonged neonatal jaundice,
growth failure, lethargy, poor appetite and constipation.
Affected infants who are treated within the first few weeks
of life will have normal or near-normal intelligence. Delayed
treatment can cause mental retardation, growth failure, deafness,
and neurological problems.
Treatment for hypothyroidism is by drug therapy. An infant born
with this condition will have to take the drug thyroxine throughout
his/her lifetime. Thyroxine is usually taken orally.