Cretinism : Causes, Symptoms,Treatment and Prevention

There are several physical conditions in the world that have taken a toll on the mental and physical growth of a human being and cretinism is one of them. Due to the congenital insufficiency of thyroid hormone, people suffer from the psychological and physical condition, namely, cretinism. Sporadic, genetic or endemic are the prime factors of cretinism.

What is Cretinism?

The prevalence of the disease is seen across the globe; especially, found in southern regions of Europe and Asian countries such as China, Nepal and Bangladesh. In these countries, endemic cretinism is primarily found.

Genetic and sporadic types of the disorder are mainly the outcome of abnormal functions or development of foetal thyroid gland. The root of this particular disease has been removed from the developed countries with the help of early diagnosis including iodine supplementation program and screening schemes on newborn babies.

The disease is known as Salt Deficiency Syndrome, Congenital Iodine-deficiency Syndrome and Congenital hypothyroidism. Cretinism witnessed among the children above two is called primary hypothyroidism.

It is seen that the babies who have not been born may have problems with a metabolism that can show outcomes of cretinism.

Past of Cretinism

Past of CretinismGoiter had been considered to be the one disorder that shows indirect or direct consumption of iodine on human health. In the ancient period, goiter was treated with the burnt sponges and algae that was found to have rich sources of iodine.

During the 19th Century, the ruler of Sardinia run the initial epidemiological study of cretinism and goitre where critical cases of cretinism and goiter were found. Later it was found that endemic cretinism was found in southern regions of Europe, mainly around the regions of Alps as referred in the works of Roman writers and artists.

The cases of this particular disease were widely found in the regions of Switzerland where there is lack of iodine in the soil of the country. Additionally, the disease has become genetic in these locations.

It is not known how many people are exactly affected by the disorder; however, it can be admitted that a large portion of the world population suffers from it. In areas such as Japan, Australia, North America and Europe, the deficiency of the thyroid can be seen; especially, among 3000-4000 infants. The disorder seems to show ill-effects on the females more than the male citizens.

Why do You Suffer from Cretinism?

The causes of the disorder vary from person to person; however, most of the cases are seen to be results of genetic mutation. Anomalies present in the enzyme production which is essentially required for thyroid hormone synthesis can be one of the causes.

Heredity and Genetic Causes

Heredity and Genetic CausesIf a small part of the population inherits anomalous genes which cause the thyroid gland to make a small amount of thyroid hormone. However, the condition may take place but there is no valid identification of abnormal shape and size of the thyroid gland.

Impairment of Thyroid Gland

It is seen that newborn babies that have become victims of the specified disorder face challenges with underdeveloped or absence of thyroid gland. In addition to the context, the gland can be found but in a different location like the side of the neck or under the tongue where it is not supposed to stay.

Generally, the gland is seen front or centre of the neck, mainly, near the top of the windpipe. Additionally, the patients seem to develop a smaller size gland than usual.

Due to absence, abnormalities or underdevelopment of the gland, less amount of thyroid is produced. This condition is often seen to be inherited from parents; however, the reason is not known to the medical professionals yet.

Iodine Deficiency in Maternal Health

Iodine Deficiency in Maternal HealthDuring pregnancy, if the mother suffers from lack of iodine, the child is susceptible to suffer from the health condition after being born. One of the prime causes for the mothers suffering from the condition is that there is iodine deficiency in the diet. Additionally, many geographical locations are to be blamed due to lack of iodine in the soil.

As the foetus requires too much of iodine when the mother is pregnant with the baby, Congenital Iodine-deficiency Syndrome is commonly seen.

Even if the mother has problems with the production of the thyroid, the foetus is likely to be diagnosed with a critical stage of a thyroid condition.

Dysfunction of Pituitary Gland

Needless to say, if the parent is diagnosed with the Congenital Iodine-deficiency Syndrome, the newborn baby has higher risks of developing the condition. In addition to the context, 5% of patients suffer from the abnormal functionalities of the pituitary gland.

Even though thyroid gland does not regulate pituitary gland is severely affected, the pituitary gland is affected due to less secretion of thyroid hormone. Additionally, ischemic damage. Tumours and congenital dysfunction are widely seen.

Symptoms of the Disease

Symptoms of the DiseaseThe symptoms and signs of the disorder generally from patient to patients; however, the normal characters that are widely seen include,

  • Low hairline
  • Pallor
  • Wide and short face
  • Foreshortened skull base
  • Overdeveloped maxilla
  • Underdeveloped mandible
  • Thick, protruding and large tongue
  • Irregular and deformed epiphyses
  • Delayed eruption of permanent and primary teeth

During infancy, there are certain symptoms that appear are a slow movement, myxedema, constipation, listlessness, drooling from the open mouth and umbilical hernia. Additionally, dry skin along with gradual development is also prominent.

Babies are often seen to undergo the conditions including protruded belly button, weak muscle tone, hypothermia and oedema.

Physical conditions appear sooner than the mental condition among the patients fighting with congenital hyperthyroidism. Jaundice, excessive sleeping, slow pulse, the abnormal functionality of heart valve, difficulties while breathing, blandness and inactivity are other symptoms that are mostly seen among later stage of the disease. Additionally, the intellectual acumen of the patients is lower than normal people.

Risk Factors Associated with Cretinism

Risk Factors Associated with CretinismNow it is seen that one in four hundred newborn babies are affected by the physical and mental condition. There are several risk factors related to the disorder and few of them are age and sex, race.

  • Cretinism is seen among twin births more and female population is more affected by the lack of iodine. The condition may be identified after or before birth; however, you must remember that the children who have crossed the age mark of 2 are referred to undergo hypothyroidism.
  • In the context of race, the disease is found to affect everyone regardless of ethnicity. However, Hispanic females are diagnosed with the disease on a large scale. Black infants are also affected due to the disorder in comparison to the white newborn babies.

In African regions, the disorder is caused due to an excessive amount of Manihot esculenta found in the food supplies. Many of the regions of Middle East are seen to envision adverse effects of the disorder. In addition to the context, many infants of the various regions have TSH concentration level over 100 mU/L and low cord blood T4 concentration.

Diagnosis of Cretinism

Diagnosis of CretinismAs the disorder is identified among newborn babies before birth, the medical professionals undertake proper diagnosis measures.

  • Through the newborn screening test, the medical professionals can identify whether the baby has any genetic disease. By taking few drops of blood with the help of heel-prick method, the sample is acquired from the baby’s body. In addition to the context, the test can find out whether the infant aging 24 to 72 hours has any sort of mental condition or physical disabilities.
  • During the third or fourth day of the baby, the thyroxine test is run to check the level of TSH. The outcome can be considered as the first stage of treatment.
  • X-rays are done taking the infant’s leg to check the bone near the knee joints. In addition to the context, the x-ray picture can show whether there is any sign of immature hypothyroidism in its body.
  • The medical professionals run the technetium test to check the prevalence of structural abnormality of the thyroid gland. Hence, the findings of all the tests lead to the diagnosis of the iodine-deficiency syndrome.

Treatment of the Disorder

As the disorder requires the earliest diagnosis possible, the medical professionals start taking effective measures after running the diagnosis part. After diagnosing, monitoring of the condition is essentially needed to evaluate and assess the condition of the infant.

The medical practitioners can prevent nervous system and brain from being severely affected by the disorder if the proper measures are undertaken right after birth.

Thyroid hormone replacement can be one of the effective procedures that can be done to the newborn. However, the baby may have to undergo the therapy for the rest of his/her life. The power of the hormone therapy may increase with the development of the baby.

With the course of time, it is essential for the babies to visit the healthcare professionals on a regular basis because monitoring is highly required to check the progress of the treatment on child’s health. In order to keep an eye on the thyroid hormone level, the doctors recommend blood test on a periodic basis.

Whether the baby is able to cope with the environment is assessed to evaluate the mental condition of the infant. In addition to the context, special attention is paid towards language, communication, personality behaviour, adaptive behaviour and motor behaviour to examine the mental development of the patient.

Additionally, the medical professionals check whether there is any prominent signs regarding the delay in speech and learning are still seen even after initiating the treatment process.

Prevention of Cretinism

One of the prime causes of the disorder is diet as due to lack of iodine found in food products, people are highly affected by the cretinism. The medical practitioners recommend the parents to give babies the food which is enriched with iodine. In addition to the context, healthcare professionals often suggest taking iodine supplements that have the potential to limit chances of brain damage among the infants.

Iron medication that has soy as the main ingredient can help a baby in an extensive manner.

As inactivity is widely seen among the infants, parents should encourage them to participate in recreational activities more.

Several complexities might arise and the complications generally involve impairment of mental abilities, stunted physical development and abnormal size of the thyroid gland which leads to Goitre. In addition to the context, it is to note that irreversible transitions may start taking place if the treatment procedure does not start within six weeks of birth.

Education for the Patients and their Families

Education for the Patients and their FamiliesOne of the prime reasons for getting knowledge of the disease is that there are certain physical abnormalities or disabilities seen in the patient right after his/her birth. This can cause mental distress to the parents if they are not familiar with the disorder and its consequences.

As the treatment must take place at the earliest stage, the parents are required to gain information on the benefits of the treatments and side effects regarding the procedures.

  • With regular follow up with the doctor, the parents of the patient can see light at the end of the tunnel. Additionally, the parents can contact with other parents whose children are diagnosed with the same physical and mental condition.
  • Joining intervention and educational classes can be helpful for the patients while providing the utmost level of care to the child.
  • There are few intervention programs available for the children which can aid them in mental development. The child is not then likely to face problems with handling his/her condition and can finally accept it to live a better life later.
  • Genetic counselling can be productive for everyone if it is certain any issue noticed due to the production of the hormone.

The current medical studies must adhere to the needs of the infants born in the underdeveloped and developing countries. As cretinism is still a major problem in various countries, the diagnosis and treatment should be initiated right after birth. The medical practitioners should acquire knowledge of the prime characteristics of the disease and rare symptoms in order to provide a higher degree of treatment to the people who are in dire need of it.

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