Congenital Hypothyroidism
Alternate Names : Cretinism
Definition
Congenital hypothyroidism describes a newborn with decreased (or, very rarely, absent) thyroid hormone production.
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Overview, Causes, & Risk Factors
Hypothyroidism in the newborn may result from absence of or abnormal development of the thyroid gland, destruction of the thyroid gland, failure of stimulation of the thyroid by the pituitary, and/or by defective or abnormal synthesis of thyroid hormones.
Incomplete development of the thyroid is the most common defect and occurs at a rate of 1 out of every 3,000 births. Girls are twice as often affected than boys.
Most affected infants have little or no symptoms, because they only have a mild deficiency of thyroid hormone. However, infants that are profoundly hypothyroid often have a distinctive appearance with a puffy-appearing face, a dull look, and a large tongue that protrudes from the mouth, which is usually kept open.
They usually develop this appearance as the disease progresses. They may have dry, brittle hair; low hairline; and jaundice. Feeding is poor and the infant may choke frequently. Constipation is common. Affected children do not cry much, but sleep excessively and are sluggish and inactive. Muscle tone is usually decreased.
If untreated, even mild hypothyroidism can lead to severe mental retardation and growth retardation. Development is delayed early on, often indicated by failure to meet normal milestones.
The appearance of teeth may be delayed. These problems become more severe as the child ages. Growth failure in terms of body length is noted very early.
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