Cretinism: Types, Symptoms, Causes, Risk Factors, Diagnosis, Treatment, Complications and Prevention

The exact statistics of prevalence and incidence are unknown. However, it is assumed that many people are affected by this disease worldwide.

Severe thyroid deficiency is observed between 3,000 to 4,000 babies in North America, Europe, Australia, and Japan.

Cretinism affects all populations and affects women twice as much as men.


Cretinism is classified into the following two types:

Endemic Cretinism:

It has the highest prevalence and arises due to insufficient iodine intake in the diet. It is common in areas with iodine-deficient soils. This form is considered an important public health problem in many countries.

Neurological Cretinism:

It is caused by thyroid deficiency in moths during pregnancy’s first and second trimesters. This leads to the lack of fetal iodine and the consequent thyroid insufficiency, which leads to neurological problems such as the inability to listen and perform motor functions and brain damage.

Myxedamatous cretinism:

The mental arrest is less severe in this form than in neurological cretinism. It is marked by abnormal effects, such as mixed (dry) skin, unusual hair, and a protruding abdomen.



In people with cretinism, the following abnormal physical characteristics can be observed:

  • The armored base of the skull.
  • Low hairline.
  • Short and broad face.
  • Underdeveloped jaw.
  • Superdeveloped maxilla.
  • Large, thick, and protuberant tongue ( Macroglossia ).
  • Delayed eruption of primary and permanent teeth.
  • Short, thickened, long bones.
  • Last appearance of the epiphysis.
  • Irregular and deformed epiphyses (in some cases).

Some signs become apparent during early childhood and include:

  • The gradual development of thick and dry skin.
  • Mild inflammation of the face and tongue.
  • Hernia umbilical.
  • Drooling from the open mouth.
  • Languidez.
  • Slow movement.
  • Constipation.
  • Myxedema.
  • Difficulties of feeding and suffocation.

Mental retardation becomes apparent in later stages and manifests in delayed learning ability and reduced intelligence problems. The effects in such phases involve:

  • Respiratory difficulties ( dyspnea ).
  • Inactivity.
  • Abnormality of the heart valve.
  • Jaundice.
  • Slow pulse (bradycardia).
  • Sleeping excessively

Newborns with cretinism may have average weight and height. But if left untreated, patients may have stunted growth to the point of dwarfism. Bones and muscles can also degenerate.


The lack of thyroid hormones is the cause. Thyroid deficiency can be the result of:

  • Iodine deficiency (in developing countries).
  • Deterioration of the thyroid gland (in developed countries).
  • A hereditary condition interrupts thyroid synthesis (inherits analogous genes that cause the thyroid gland to make fewer hormones).
  • Intake of antithyroid drugs during pregnancy (rare).

Risk factor’s

Risk factors include:

  • To be a woman.
  • Be of Hispanic origin.
  • Having a white complexion (the ratio is lower among blacks).

Diagnosis of cretinism

It is usually detected within a week after birth. Hormone levels in babies are tested. A thyroid test is performed to evaluate the thyroid gland if a deficiency is observed.

In some cases, diagnostic tests such as x-rays and ultrasound may be used. The findings of these imaging tests can be helpful in differential diagnosis and in avoiding misdiagnosis.


If tests confirm cretinism, hormone replacement therapy is used in the form of oral thyroxine. The treatment should ideally begin within the first weeks of life and continue throughout life.

The doses should be increased or reduced whenever it is considered appropriate.

Complications of cretinism

Complications include:

  • Physical development permanently atrophied.
  • Deteriorated mental abilities
  • Abnormal enlargement of the thyroid gland ( goiter ).
  • Irreversible changes may occur unless the treatment is started within the first six weeks of life.


When treated early, the result is good. Newborns diagnosed and treated within the first weeks after birth usually have average intelligence. Late treatment or lack of treatment causes growth retardation and intellectual disability.

Death is rare in patients receiving medical treatment. Life expectancy is average in most patients with cretinism.

Prevention of cretinism

As endemic cretinism arises from iodine deficiency in the diet, iodine administration has established itself as a health policy in many countries.

The detection of newborns can help detect the disorder in the first trimester of pregnancy. Adequate intake of iodine in the diet of pregnant mothers can also prevent cretinism in babies.