Current Concepts of the Pathological Physiology of Congenital Hypothyroidism

Congenital hypothyroidism (CH) is the most common endocrine disorder in newborns, preventable through early diagnosis, newborn screening, and treatment. CH is characterized by a deficiency of thyroid hormones at birth and is one of the most common causes of preventable mental retardation worldwide. It occurs as a result of underdevelopment of the thyroid gland, insufficient hormone synthesis, or thyroid hormone intolerance. This article discusses congenital hypothyroidism: its main causes, incidence, the effect of thyroid hormone, genetic predisposition, and the possibility of gene linkage.

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