Congenital hypothyroidism

摘要

The introduction of neonatal screening for congenital hypothyroidism (CH) has had a dramatic effect on the prognosis of affected children. Thyroxine is essential for neurological and skeletal development and early replacement therapy is critical in optimizing outcome. The severity of CH is variable and the causes diverse, from developmental disorders of thyroid development to disorders of hormone synthesis. An understanding of the mechanisms underlying disorders of the thyroid gland, in some cases at the molecular level, can help both in guiding management and prognosis.