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Concept
Congenital iodine deficiency syndrome
Summary
Congenital iodine deficiency syndrome is a medical condition present at birth marked by impaired physical and mental development, due to insufficient thyroid hormone (hypothyroidism) often caused by insufficient dietary iodine during pregnancy. It is one cause of underactive thyroid function at birth, called congenital hypothyroidism, historically referred to as cretinism (obsolete). If untreated, it results in impairment of both physical and mental development. Symptoms may include goiter, poor length growth in infants, reduced adult stature, thickened skin, hair loss, enlarged tongue, a protruding abdomen; delayed bone maturation and puberty in children; and mental deterioration, neurological impairment, impeded ovulation, and infertility in adults.
In developed countries, thyroid function testing of newborns has assured that in those affected, treatment with the thyroid hormone thyroxine is begun promptly. This screening and treatment have virtually eliminated the consequences of the disease.
Iodine deficiency causes gradual enlargement of the thyroid gland, referred to as a goiter. Poor length growth is apparent as early as the first year of life. Adult stature without treatment ranges from , depending on severity, sex, and other genetic factors. Other signs include thickened skin, hair loss, enlarged tongue, and a protruding abdomen. In children, bone maturation and puberty are severely delayed. In adults, ovulation is impeded and infertility is common.
Mental deterioration is common. Neurological impairment may be mild, with reduced muscle tone and coordination, or so severe that the person cannot stand or walk. Cognitive impairment may also range from mild to so severe that the person is nonverbal and dependent on others for basic care. Thought and reflexes are slower.
Around the world, the most common cause of congenital iodine deficiency syndrome (endemic cretinism) is dietary iodine deficiency.
Iodine is an essential trace element, necessary for the synthesis of thyroid hormones.
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