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Congenital hypothyroidism is a treatable condition caused by low levels of thyroid hormone present from birth, often due to genetic or fetal abnormalities. Early diagnosis is important to prevent physical and intellectual disabilities. Treatment involves hormone supplementation for life.
Congenital hypothyroidism is a low level of thyroid hormone present from birth and caused by a genetic condition or abnormalities in fetal development, often the result of exposure to environmental hazards, though not always. This condition is not curable, but it is treatable, and when diagnosed early, the patient may experience no ill effects from congenital hypothyroidism. Many medical facilities routinely check for this condition at birth so it can be identified and addressed if it is present.
In some children, the thyroid gland is underdeveloped, in the wrong place, or not present at all. Other cases involve thyroid malfunctions that cause an underproduction of hormones. All of these situations result in abnormally low levels of thyroid hormone, leading to health problems due to the interconnected nature of the endocrine system and the rest of the body. In rare cases, babies have temporarily low thyroid hormone levels due to the hormones in their mother’s milk. In these cases, once the baby begins to produce thyroid hormone on its own, the levels will rise and this will show on a blood test to follow up on the low levels seen at birth.
About one in 3,000 to 4,000 children has congenital hypothyroidism, with girls being twice as likely to get it. At birth, the baby usually looks and behaves as one would expect from a healthy baby. Over time, the child will become lethargic and fussy. A swollen face, jaundice, poor nutrition, and constipation may develop. If the low thyroid hormone levels aren’t addressed, your developing baby will experience stunted growth, in addition to developmental delays.
Historically, congenital hypothyroidism has not been treated and as a result people have developed physical and intellectual disabilities. The term “cretin” has been used to refer to people who have experienced disabilities caused by low levels of thyroid hormone. Today, screening is done within 72 hours of birth for most newborns. If the screening reveals low levels of thyroid hormone, the child is given a thyroid hormone supplement by mouth. Permanent disability caused by congenital hypothyroidism is very easy to prevent.
Treating congenital hypothyroidism with hormones requires periodic testing to confirm that the developing baby is getting enough hormones. As the child grows, the dosage will need to be increased. People continue hormone supplementation for life, making sure their bodies are getting enough of the hormone to function. Large doses of thyroid hormone eliminate developmental delays that would otherwise occur with congenital hypothyroidism.
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