What is congenital hypothyroidism?
Congenital Hypothyroidism (CH) is the name for babies born with hypothyroidism due to the thyroid gland being absent or severely deficient.1 If it is not detected and treated early irreversible neurological problems and poor growth can occur.2
Some children may develop primary hypothyroidism after birth rather than CH. This is sometimes called acquired hypothyroidism3 and these children do not experience the irreversible neurological problems due to untreated CH.4
CH is found in around 1 in 4,000 live births5 and it is twice as common in females.6 There is a possibility that it is more prevalent in multiple pregnancies.7
What causes it?
75% of cases of CH may be due to a total or incomplete development of the thyroid, which is not inherited or a failure of pituitary control (TSH is absent).4
10% of cases are due to an enzymic failure in the manufacture of thyroid hormones, (defects in thyroglobulin), which is usually inherited so there may be a risk to further infants.8
5% of cases are due to hypothalamic-pituitary dysfunction and this type of dysfunction usually causes other disorders such as lack of growth hormone etc. This type of cause may include tumours, arterial blockage and congenital defects.4
10% of cases the hypothyroidism is not permanent as it is due to things such as medications that the mother is taking i.e. carbimazole or maternal antibodies where the hypothyroidism improves after delivery.4
Some patients will also have other congenital defects and in some cases there are genetic defects that have caused CH.9
Lack of early treatment of congenital hypothyroidism may cause delayed mental development, learning difficulties and poor co-ordination.
What are the signs and symptoms of congenital hypothyroidism?
The signs and symptoms of congenital hypothyroidism can include: 1, 5, 10
- feeding difficulties
- dry skin
- hoarse cry
- puffy appearance
- tongue may appear enlarged and may protrude
- distended stomach
- large soft spots on the skull
- weak and floppy muscles (hypotonia)
In older children the signs and symptoms may also include:3, 11
- slow growth possibly causing short limbs
- delayed tooth development
- poor school performance
- lack of energy
- dry skin
- delayed pubertal development
How is it diagnosed?
All babies are screened at birth (the heel prick test)1 for hypothyroidism and 8 other rare but serious diseases.12 If a high TSH is detected the baby will then have this confirmed by a venous test.13
In older children a TSH and an FT4 test may be done as well as thyroid antibody testing.11
How is it treated?
Early detection means early treatment to ensure that infants do not develop irreversible neurological disability.
Levothyroxine is given with dosage increases until thyroid function tests return to normal and then testing is done regularly until the infant is two years of age. FT4 should be kept in the upper half of the normal range.4
Children’s growth and mental development should be monitored throughout their childhood.4 As long as they are on the right treatment and dosage, they should remain well.
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Acquired – to get something
Antibodies – protein produced in the blood that fight diseases by attacking and killing harmful bacteria
Arterial – involving or relating to arteries and the movement of blood through the body
Carbimazole – the most commonly used medicine for hyperthyroidism. It works by reducing the amount of thyroid hormones which your thyroid gland makes
Congenital – medical condition that is present at or before birth
Deficient – a lack of, or shortage of something
Distal femoral epiphysis – thigh bone/femur bone of the foetus
Distended – swollen due to pressure from inside; bloated
Dysfunction – a problem or fault in a part of the body
Enzymic – of, pertaining to, or using enzymes (a protein that creates a chemical reaction in the body)
Genetic – relating to genes or heredity
Hypothalamic-pituitary dysfunction – a problem or condition with the region of the brain known as the hypothalamus, which helps to control and regulate body functions of pituitary gland like adrenal glands, ovaries, testes, thyroid gland
Hypothyroidism – a term used to describe an under-active thyroid gland
Jaundice – serious disease in which substances not usually in the blood cause skin and white part of eyes to turn yellow
Levothyroxine – a synthetic thyroid hormone commonly given to treat an underactive thyroid. It is also known as L-thyroxine
Neurological – relating to the anatomy, functions, and organic disorders of nerves and the nervous system
Pituitary – of or relating to the pituitary gland
Prevalent – widespread or happening often
Primary hypothyroidism – a condition of decreased hormone production by the thyroid gland
Pubertal – relating to the period during which adolescents reach sexual maturity and become capable of reproduction
Screened – medical tests to check for diseases and health conditions before there are any signs or symptoms
Thyroglobulin – a protein made by cells in the thyroid
- Congenital Hypothyroidism
- Congenital Hypothyroidism
- Acquired Hypothyroidism in Children
- Childhood and Congenital hypothyroidism
- Park SM, Chatterjee VK; Genetics of congenital hypothyroidism. J Med Genet. 2005 May42(5):379-89.
- Olivieri A, Medda E, De Angelis S, et al; High risk of congenital hypothyroidism in multiple pregnancies. J Clin Endocrinol Metab. 2007 Aug92(8):3141-7. Epub 2007 May
- Kumar PG, Anand SS, Sood V, et al; Thyroid dyshormonogenesis. Indian Pediatr. 2005 Dec42(12):1233-5.
- PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.
- Congenital Hypothyroidism – What are the signs and symptoms of congenital hypothyroidism?
- Hypothyroidism in Children and Adolescents
Date updated: 21/02/20 (V1.6)
Review date: 29/08/21