Treating patients not numbers: the benefit and burden of lowering TSH newborn screening cut-offs.

摘要

A century has passed since children affected by congenital hypothyroidism (CHT) were first treated successfully with thyroid extracts. At that time the diagnosis of severe 'sporadic' cretinism was based solely on clinical observation, long before measurement of thyroid hormone and thyroid stimulating hormone (TSH) was possible. Treatment success was evident with the dramatic clinical improvement in the growth and activity of these children. However, the severe mental retardation failed to improve in those early cases, which led to the conclusion that thyroid hormone is critical for normal neuronal maturation within a critical time window early in life.