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In the era of newborn screening, congenital hypothyroidism is extremely rare. Still, if present, it is especially important that it be diagnosed and properly treated. Failing to properly treat congenital hypothyroidism can negatively affect IQ and neurological development. Congenital hypothyroidism is actually one of the most common -- yet treatable -- causes of mental retardation worldwide. There are two main forms of congenital hypothyroidism -- permanent congenital hypothyroidism and transient congenital hypothyroidism.
Congenital hypothyroidism can be due to a defect in the thyroid hormone transport mechanism. In some infants, central hypothyroidism -- which involves hypothalamic or pituitary problems -- is the cause of congenital hypothyroidism.
Antithyroid drugs (PTU, methimazole) taken by a pregnant woman who is hyperthyroid crossing the placenta, causing hypothyroidism in the newborn. Usually, the hypothyroidism resolves several days after birth, and normal thyroid function returns within a few weeks.
Fetus or newborn exposure to very high doses of iodine, which can cause transient hypothyroidism. This sort of iodine exposure results from use of an iodine-based medication like amiodarone (used to treat irregular heart rhythms) in mother or baby, or use of iodine-containing antiseptics or contrast agents.
Increased birth weight Increased head circumference Lethargy (lack of energy, sleeps most of the time, appears tired even when awake) Slow movement A hoarse cry Feeding problems Persistent constipation, bloated or full to the touch An enlarged tongue Dry skin Low body temperature Prolonged jaundice A goiter (enlarged thyroid) Abnormally low muscle tone Puffy face Cold extremities Thick coarse hair that goes low on the forehead A large fontanel (soft spot) A herniated bellybutton Little to no growth, failure to thrive
Congenital hypothyroidism is more common in infants who have other congenital malformations (mostly heart-related) and Down syndrome.