Cretinism

Causes

Cretinism is a disease related to the thyroid gland which is an endocrine gland that is located in the neck. In a newborn it can result from the non-appearance or defective development of the thyroid gland, defective synthesis of thyroid hormones or lack of stimulation of the thyroid by the pituitary.

Some underlying causes of cretinism are:

Hereditary: Many patients inherit anomalous genes from their elders and this would lead to less production of thyroid hormones.

Missing or Misplaced Thyroid Gland: In many patients, the thyroid gland is either absent or not developed. However, in some cases the gland is found on a different location, while for others it is smaller than the normal size.

Maternal Iodine Levels: A mother’s iodine deficiency during the pregnancy can result in an iodine deficiency for the fetus and may affect the thyroid gland.

Maternal Thyroid Conditions: Many times a pregnant mother’s fetus is diagnosed with a thyroid problem. The treatment for this disorder may also increase the occurrence of cretinism.

Symptoms

The practice of testing for cretinism is common. Some of the symptoms to look out for are:

  • CretinismLarge anterior fontanel or persistence of posterior fontanel
  • CretinismLow hair line with dry and brittle hair
  • CretinismDull and puffy cheeks
  • CretinismLarge, thick and protruding tongue
  • CretinismProtruded belly button
  • CretinismEdema
  • CretinismJaundice
  • CretinismLow body temperatures
  • CretinismDecreased muscle tone
  • CretinismLow cry
  • CretinismDifficulty and breathing
  • CretinismHeart valve abnormality
  • CretinismShort stature
  • CretinismLow weight gain
  • CretinismExcessive

Test

Infant Screening Test: Blood test to become aware of metabolic and genetic disorders to detect and prevent occurrences of physical disabilities, mental retardation and death are undertaken. The test is carried out in 1 to 3 days of birth.

TSH and T4 Level Measurement: Routine screening of the infant with the help of a blood-spot is carried out to detect high TSH levels.  This is an efficient and cost effective test to indicate hypothyroidism and is usually done every 5 to 7 days. Cretinism can be prevented if the T4 levels developed in the first few months of life.

Technetium and X-rays: Undertaken to examine the presence of structural abnormalities of the thyroid gland. X-rays are carried to check bone ends and joints of the baby legs.

Treatment

Early diagnosis of cretinism is very important as at early stages they are reversible. After a few months of birth critical development of the nervous system starts taking place and any damage can cause mental retardation.

Replacement therapy with thyroxin is undertaken to treat cretinism. After the medication is prescribed, regular blood tests to monitor TSH and T4 levels are undertaken. 

Nonexistence of the thyroid and defected thyroxin production is not escapable. However, thyroid can be destroyed in the fetus if the mother is treated with radioactive iodine to treat thyroid cancer during pregnancy. Such infants must be observed carefully after birth for any evidence of drug induced illness.

Prognosis

Very early diagnosis ensures good and successful outcomes of the medications. With appropriate care, the growth and mental capability of the infant also alters and those that are diagnosed in the early months generally develop like normal peers. Non treatment can result in intellectual disability and delayed growth.

Prevention

Pregnant ladies who have an insufficient iodine intake are putting their fetus at risk. Thus, it is very important to ensure proper levels of iodine are consumed by the pregnant mother. Prevention is possible if symptoms are detected during pregnancy as appropriate medication may decrease the chances of cretinism. Most states require a routine screening test to check all infants for the illness.

Treatment Cost

In addition to the above mentioned tests and medicines, there is no other cost involved.