Cretinism symptoms include brain damage, mental retardation and severely stunted physical growth. It is usually caused by a deficiency of thyroid hormones (hypothyroidism) during pregnancy. This condition can be sporadic or endemic and is treated with thyroid hormone replacement therapy.
Sporadic cretinism occurs when thyroid synthesis is abnormal, resulting in a deficiency of thyroid hormones. This is due to a genetic defect in thyroid hormone synthesis, a defective iodine trapping system, or an inherited disorder of the enzymes involved in the conversion of iodine to thyroid hormone.
A child with sporadic cretinism may have a normal height, but skeletal abnormalities and growth retardation are common. The child may also be overweight, have poor bone development and abnormal facial features.
Psychologically, a child with sporadic cretinism is often very depressed and anxious. They might have a low IQ and be very unsociable or socially isolated.
In many cases, mental retardation and neurological changes may not be evident until the child reaches middle age. However, some children with sporadic cretinism are still intellectually active as they reach school age.
Some patients have a reduced appetite, are more susceptible to infections and are more sensitive to colds. They may also experience problems with their eyes and hearing.
The condition can also cause a decrease in the amount of iron in the blood. This can lead to weakness, fatigue and lethargy.
Affected patients should not be given vitamin supplements. These can make the condition worse by causing a vitamin B12 deficiency and may even result in death.
Thyroid hormone plays a significant role in fetal brain and nervous system development. The mother’s level of thyroid hormone during the early stages of pregnancy is critical for fetal brain development. This is why a high iodine intake before pregnancy is so important in the prevention of congenital hypothyroidism and sporadic cretinism.
The iodine level in the mother’s blood is also affected by her diet. A diet low in iodine can result in goiter and cretinism in the fetus.
Cretinism can be very serious and can be life threatening if not diagnosed and treated in time. It is recommended that all neonates are screened for this condition as it can have severe consequences if left untreated.
It is rare to have a cretin born to a non-endemic goiter population, but it can occur in areas where goiter is severely endemic. The condition is a major public health problem and can be prevented by eliminating iodine deficiency in the diet before pregnancy.
Some endemic goiter areas, such as Papua New Guinea, have an epidemic of cretinism. This is because iodine deficiency is a major disease affecting these areas.
There is no known cure for endemic cretinism, but treatment with thyroid hormones can improve the patient’s quality of life and prevent or slow down neurologic changes. The mainstay of treatment is iodine supplementation and thyroid hormone replacement therapy.
The iodine supply in the diet can be supplemented by importing salt from countries where iodine is abundant or by making iodine-rich foods available in the home. A diet enriched in iodine can also help prevent the development of cretinism and other disorders of iodine deficiency, such as myxedematous cretinism.
