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Shorten: Congenital hypothyroidism in infants occurs when thyroid tissue is absent (thyroid dysgenesis) or with hereditary defects in TH synthesis.57 Thyroid dysgenesis occurs more often in female infants, with permanent abnormalities in 1 of every 4000 live births. Congenital central hypothyroidism in children is caused by defects in thyroid-stimulating hormone (TSH) synthesis.58 Because TH is essential for embryonic growth, particularly of brain tissue, the infant will be cognitively disabled if there is no thyroxine during fetal life. The fetus is dependent on maternal thyroxine for the first 20 weeks of gestation. Hypothyroidism may not be evident at birth since there is transplacental passage of some maternal thyroid hormone. Symptoms may include high birth weight, hypothermia, delay in passing meconium, and neonatal jaundice. Cord blood can be examined in the first days of life for measurement of T4 and TSH levels. The probability of normal growth and intellectual function is high if treatment with levothyroxine is started before the child is 3 or 4 months old. The earlier thyroid hormone replacement therapy is initiated, the better the child’s outcome.59

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