Abstract
With a prevalence of one in 3000–4000 newborns, congenital hypothyroidism (CH) is the most common inborn endocrine disorder and one of the most common preventable causes of mental retardation. While most cases are sporadic and associated with abnormalities of thyroid gland development and migration (thyroid dysgenesis), approximately 15–20% are caused by inherited defects in one of the steps of thyroid hormone synthesis (thyroid dyshormonogenesis). When the synthesis defect results in reduced hormone secretion, the ensuing diminished negative feedback on the anterior pituitary thyrotrophs leads to an increase in thyrotropin (TSH) secretion stimulating the thyroid gland. Consequently, patients are born with an enlarged thyroid gland (goiter) or develop goiter postnatally, especially when diagnosis and treatment with levothyroxine (L-T4) are delayed.
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