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What is congenital hypothyroidism?

The heel prick or Guthrie, test, where a small amount of blood is collected from your baby's foot a few days after birth, checks for thyroid function among other rare conditions. Dr Howard Lee explains how early detection can allow a child to develop normally

What is congenital hypothyroidism?

Congenital hypothyroidism affects infants from birth (congenital) and results from the loss of thyroid gland function (hypothyroidism). Untreated, it's a threat to physical and mental development. It is a fairly common childhood endocrine disorder that in the UK affects 1 in every 3,500 to 4,000 infants. The condition is twice as common in girls. The thyroid gland either fails to develop properly before birth - or fails to work adequately immediately afterwards, and this is the commonest cause of the disease.

• In a very small number of cases the condition is thought to be temporary
  
• In another small group there may be an inherited link
  
• The chance of parents with a congenital hypothyroid child having another baby with the condition is thought to be 1 in 4 for every child born to them

Serious long-term effects

If your baby does have hypothyroidism, it is vital that an early diagnosis is made. Early treatment is imperative in order to prevent irreversible damage - which causes severe mental retardation - occurring to the nervous system. The absence of thyroid hormones can cause very serious mental and physical retardation - cretinism and dwarfism are long-term effects that occur if the condition is not spotted. Untreated disease can present as a floppy infant, with stunted growth - perhaps the first suggestions being failure to meet the usual growth milestones - and there is often poor feeding. There may also be problems with constipation and jaundice. Changes in the appearance of the baby are also characteristic: the skin is pale and thicker; the baby's face may be dull, slow-reacting and slightly puffy; the tongue may be more prominent in an open mouth. The infant will seem floppy, because the muscle tone is decreased, and tend to sleep excessively.

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