Revised 2018

Congenital hypothyroidism (CHT) is a condition resulting from an absent or under-active thyroid gland or one that cannot make thyroid hormone because of a ‘production line’ problem. The term 'congenital' means that the condition is present at birth. Untreated, it can result in developmental problems and a decrease in intelligence quotient (IQ).

Causes

Sometimes the thyroid gland

  • Does not develop in the unborn baby
  • Is in the wrong position and does not work well
  • Is in the right position but does not produce thyroxine normally (a ‘production line’ problem)

Symptoms

Sometimes there may be no obvious symptoms which is why testing at birth is so important. But some babies with CHT may have the following symptoms

  • Sleepy and difficult to feed
  • Constipation
  • Cold hands and feet
  • Low muscle tone (floppiness)
  • Poor growth
  • Prolonged jaundice
  • Sometimes symptoms may be very hard to spot

Diagnosis

  • All babies born in the UK are screened for CHT using a heel prick blood test usually performed by midwives about four to five days after birth (called the Guthrie test)

Treatment

  • Levothyroxine in tablet or liquid form
  • The dose will be adjusted as the child grows
  • It is important to take the tablets regularly and on the same schedule
  • Your baby should be managed by a paediatric endocrinologist or a paediatrician with a special interest in endocrinology

Are there any side effects?

  • Too much levothyroxine may cause irritability, mild diarrhoea, or poor weight gain.
  • Too little levothyroxine over a significant period of time may cause lack of energy, constipation, cold extremities, unexpected weight gain or slow growth

Follow-up

Blood tests are carried out

  • Every few weeks during the first few months of life
  • Every three to six months during infancy and childhood

Long term outlook

  • Levothyroxine will usually be needed for life
  • The vast majority of babies diagnosed with CHT and treated from birth will grow up normally

Thyroid problems often run in families and if family members are unwell they should be encouraged to discuss with their own GP whether thyroid testing is warranted.

This Quick Guide is one in a series about thyroid disorders. All Quick Guides are available on the British Thyroid Foundation website.

A leaflet containing more detailed information about Congenital Hypothyroidism is also available.

The British Thyroid Foundation

The British Thyroid Foundation
www.btf-thyroid.org
info@btf-thyroid.org
tel:01423 810093
The British Thyroid Foundation is a registered charity: England and Wales No 1006391, Scotland SC046037

Membership Information
Quick Guides
Leaflets

Endorsed by:

The British Thyroid Association - medical professionals encouraging the highest standards in patient care and research
www.british-thyroid-association.org

The British Association of Endocrine and Thyroid Surgeons - the representative body of British surgeons who have a specialist interest in surgery of the endocrine glands (thyroid, parathyroid and adrenal)
www.baets.org.uk

First issued: 2008
Revised: 2010, 2011, 2015, 2018
Our literature is reviewed every two years and revised if necessary.
© 2018 BRITISH THYROID FOUNDATION

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