University College London, London, UK.
The newborn screening programme for congenital hypothyroidism was introduced in the United Kingdom in 1981 and has virtually abolished cases of untreated congenital hypothyroidism (CH). Congenital hypothyroidism is a common (1 in 34000 life births) condition in which the thyroid gland has either failed to develop (agenesis) developed in an abnormal position (ectopic gland) or is present but does not respond to thyroid stimulating hormone (TSH) (dyshormonogenesis). In the neonatal and early childhood years thyroxine is essential for normal brain development so early diagnosis and timely instigation of therapy is essential to allow normal neurodevelopment. This talk will review the current performance of the UK Screening Programme and consider developments in terms of the screening cut-off points used, doses of thyroxine used to initiate therapy and the evaluation of the newborn in the light of developments in understanding the biochemical and genetic basis for congenital hypothyroidism. From a public health standpoint issues surrounding iodine deficiency will be discussed.