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Newborn Metabolic Screening Program

Congenital Hypothyroidism (CAH)

An Endocrine Disorder:

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 development.

Inheritance and Frequency
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.

Signs & Symptoms
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.

Long Term Effects
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.