Abstract
Congenital hypothyroidism (CH) and resistance to thyroid hormone syndrome (RTH) are conditions impacting production or use of thyroid hormones. CH is a permanent thyroid hormone deficiency affecting approximately 1 in 5,000 live births and can be identified through newborn screening protocols in many places in North America. Although CH is usually sporadic and can be due to lack of dietary iodine, up to 20% of cases have a monogenic etiology. Monogenic CH may develop due to thyroid dysgenesis associated with variation in the TSHR and PAX8 (non-syndromic) or NKX2-1, FOXE1, and NKX2-5 (syndromic) genes.
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