What is Cretinism Disease?

Causes, Symptoms & Treatment of Cretinism Disease

Cretinism is a medical disorder that significantly disables physical growth and mental development. The root cause of the syndrome is usually a deficiency of thyroid hormones due to a poor diet lacking sufficient iodine. Cretinism patients may exhibit body shortness, persistent tiredness, coarsening of the face, bone maturation defects, and disruption of mental processes in general.

To learn more about it, read on!

Understanding Cretinism

Cretinism, also known as Congenital Iodine-Deficiency Syndrome, results from a deficiency of iodine during pregnancy. This iodine shortage leads to a deficit in thyroid hormones—a condition known as hypothyroidism. When the infant is born with an underactive thyroid due to this, it is called congenital hypothyroidism. Without early and proper medical treatment, this condition can severely hinder the child’s physical and intellectual development.

What are the Symptoms of Cretinism?

Similar to any of the diseases in the medical field, cretinism exhibits a pattern of identifiable signs that can help in early diagnosis. Among the most prominent and often seen are:

• Slowed or delayed tendon reflex
• Tissue swelling (myxedema)
• Bulging tongue
• Swelling of the abdomen
• Hearing loss and speech disorder
• Posture and balance difficulty, with a typical gait pattern
• Low IQ and mental retardation
• Dense, coarse skin
• Deep, hoarse voice
• Enlargement of the thyroid gland (goitre)
• Stunted body growth and late development
• Presence of an umbilical hernia
• Delayed development of sexual characteristics
• Sparse hair and underdeveloped nails
• Short stature or dwarfism
• Poor muscle tone and coordination, often with mild neurological issues

What are the Causes of Cretinism?

Cretinism is caused by a wide range of underlying reasons, the majority of which are thyroid or iodine deficiency. The primary causes for this condition are as follows:

• Congenital goitrous conditions such as lack of the thyroid gland or inability to produce enough thyroid hormone from birth.
• Inadequate dietary supply of iodine is referred to as endemic cretinism.
• There has to be a specific amount of thyroid hormone from the mother while pregnant so that the fetus can develop properly. Because the fetus relies on the mother's thyroid hormones, passed through the placenta, in order to lay down its brain, any lack will lead to damage.
• Thyroid hormones are also crucial in the development of the central nervous system, particularly in the neonatal and fetal stages of life. Without them at these life stages, overall neurological growth can be impeded.
• The hormones control bone and muscle development but are predominant in skeletal muscle compared to soft tissue. In cretinism, disturbance of this development will mainly cause abnormally developed proportions between the skeleton and soft tissue.

There are several reasons for hypothyroidism in infants, such as:

• Irregular or complete failure of thyroid development within an embryo.
• Genetic defect to produce thyroid hormones.
• Radioactive iodine therapy or antithyroid medications are taken during pregnancy to manage thyroid cancer that may affect the fetus.
• Intake of some medications such as lithium, sulfonamides, or antithyroid drugs by the mother during pregnancy, which interfere with thyroid function.
• Deficiency of iodine in the mother's diet during pregnancy.

As the body of a human being cannot naturally produce iodine, it needs to be taken in by means of foods.

What is the Treatment of Cretinism?

Cretinism, being most frequently caused by congenital hypothyroidism, needs to be treated early and effectively to prevent permanent injury. Treatment should ideally be initiated in the first two weeks following birth in a newborn to gain the maximum developmental advantage.

1. Early Diagnosis and Early Treatment

Diagnosis is established on the basis of thyroid function tests and clinical examination. Treatment must be started immediately upon diagnosis to avoid permanent damage.

2. Thyroxine Replacement Therapy

The primary treatment is levothyroxine, an artificial thyroid hormone. Starting doses are typically 10-15 micrograms per kilogram of body weight per day. Dosages need to be changed as the child develops to provide the correct hormone amounts.

3. Daily Medication

Thyroxine needs to be taken daily to help maintain an equilibrium of hormones. Missing doses will cause delayed and accelerated long-term growth and mental retardation.

4. Potential for Improvement

Although some of the injuries, particularly to mental function, are irreversible, treatment at an early stage can prevent the loss from progressing and can even enhance physical and neurological function.

5. Administration of the Medication

The levothyroxine tablets may be crushed and mixed with water, formula, or milk to make it easier to give to infants. Parents should be cautious with formula feeding, as soy-based formulas can reduce the absorption of the hormone.

6. Follow-Up Care and Monitoring

Maintenance of long-term care involves continuous hormone level monitoring and adjustment of medication as appropriate. Regular consultation with a pediatric endocrinologist is necessary to provide optimal growth and health outcomes.

Cretinism is a preventable but serious illness that is typically caused by congenital hypothyroidism and maternal iodine insufficiency. It can severely impair a child’s physical and cognitive growth if not treated promptly. However, early diagnosis and ongoing hormone replacement therapy can avert or considerably mitigate most of the unwanted effects.

Apart from timely medical care, financial protection is also required. A reliable health insurance policy can help manage unexpected treatment costs. At Star Health, we offer comprehensive health coverage under our general insurance products. We have benefits such as cashless claims and easy treatment at more than 14,000 of our network hospitals in India so that you can face challenging situations with confidence and peace of mind.