cretinism

cretinism is a hormone deficiency disorder of the body growth and mental development of newborns. An early examination of the infant can easily identify the deficiency. Treated children develop completely normally.

What is cretinism?

Cretinism manifests itself in the first weeks of life through various symptoms, which, however, cannot yet be clearly attributed to a thyroid defect. General symptoms such as constipation, a slow heartbeat or newborn jaundice can occur.
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cretinism is a developmental disorder in children caused by a lack of thyroid hormones. The term is derived from the French word crétin = idiot.

This name came about because the hormone deficiency in the brain of the sick person leads to irreversible damage and thus to poor mental performance. There are two types of cretinism. The endemic (locally limited) form occurs only in certain areas and is caused by the mother's iodine deficiency during pregnancy in the child. The iodine deficiency arises from the local conditions in regions in which there is no or very little iodine in the soil and in the air.

Endemic cretinism is the most common form. Sporadic (sporadic) cretinism is much rarer and is caused by a genetic disorder of the thyroid gland. Today, the disease no longer occurs in western countries, as the hormone levels of newborns are routinely examined and cretinism can be prevented with the administration of hormones.

causes

cretinism is caused by a lack of thyroid hormones. In endemic cretinism, an iodine deficiency in the mother is responsible for the fact that the unborn child lags behind in both physical and mental development.

The body needs iodine in order for the thyroid gland to produce hormones. These hormones are needed for body growth and the development of mental abilities. A lack of hormones results in the embryo not developing normally. Very rarely, cretinism can also result from an excess of iodine, for example if the mother takes too many drugs containing iodine because of an underactive thyroid.

The genetic cretinism in children is caused by a congenital hypothyroidism, a displacement of the thyroid gland or an incomplete or non-existent thyroid gland. Certain enzyme defects can also affect the production of hormones and thereby trigger cretinism.

Symptoms, ailments & signs

Cretinism manifests itself in the first weeks of life through various symptoms, which, however, cannot yet be clearly attributed to a thyroid defect. General symptoms such as constipation, a slow heartbeat or newborn jaundice can occur. Affected infants are also often apathetic, drink little and have slack muscles. If these symptoms are not treated, pronounced cretinism will develop quickly.

This leads to development disorders of bones and teeth, which can result in shortened fingers and damage to the teeth and the teeth holding apparatus. As the disease progresses, myxedema develops. The skin of the sick children then looks puffy and doughy, especially in the area of ​​the eyelids and hands. Accompanying this, cretinism leads to weak connective tissue, which can manifest itself, among other things, in a large abdomen and an umbilical hernia.

The skin changes make the skin appear dry and noticeably marbled relatively quickly. Macroglossia can develop in the oral cavity - a large enlargement of the tongue that is associated with feeding problems and breathing difficulties. Furthermore, muscle weakness and hoarseness occur in cretinism. If no treatment is given by then at the latest, further physical complaints and mental development disorders arise.

Diagnosis & course

The symptoms of cretinism are only detectable after birth, approximately in the first two weeks of life. Due to the lack of hormones, the bones of the newborn do not mature properly, the children appear bloated (myxedema) and have a yellowish skin color (jaundice).

In the third week of life, an umbilical hernia often forms and the baby's tongue swells. The muscle reflexes are weak, the voice hoarse and digestion is disturbed.If the child is not treated, short stature can be expected in the further course, whereby the size of the arms and legs is not in proportion to the size of the trunk. The fingers are too short, the nose is turned up and speech development is disturbed.

Since cretinism can be diagnosed easily with a blood test, it hardly ever occurs in countries with routine examinations of newborns. If hormone levels are found to be too low, the doctor will examine the child's thyroid gland with regard to its function, development and location in order to initiate the correct treatment for cretinism.

Complications

In most cases, cretinism can be treated relatively well and easily. However, early treatment is necessary to avoid complications and other consequential damage. As a result of cretinism, those affected primarily suffer from a developmental disorder. This is particularly dangerous for children. Cretinism can also lead to growth disorders in children and negatively affect bone structure.

The skin often turns yellow, so that the complaint can be mistaken for jaundice. Furthermore, there is also a strong increase in weight and often a drinking disorder. The patients then continue to suffer from dehydration, which can have a very negative effect on the entire body. Furthermore, the patients can also suffer from short stature.

Especially at a young age, the symptoms can lead to teasing or bullying. With the help of hormones, the symptoms of cretinism can be combated relatively easily. There are no complications and the disease progresses positively. The life expectancy of the person affected is not affected by successful treatment.

When should you go to the doctor?

If cretinism is suspected, a visit to the doctor's office is recommended. The disease does not heal on its own and can cause various symptoms if left untreated. Therefore, medical treatment must always take place. Parents who notice growth disorders in their child should inform the pediatrician. The same applies to weight problems and signs of jaundice. If the child no longer drinks enough, they should go to the pediatrician directly.

Depending on the cause of the cretinism and how severe the symptoms are, other specialists sometimes have to be called in. Here too, early treatment is necessary. The parents of affected children should therefore strive for a rapid diagnosis and therapy in order to avoid or minimize further complications. A therapist may also be sought later in life because of the mental health problems cretinism sometimes causes. Other contact points are internists, nutritionists and a specialist clinic for thyroid diseases.

Treatment & Therapy

The progressive symptoms of cretinism can be prevented by the earliest possible therapy. Treatment consists in giving artificially produced thyroid hormones in the form of tablets.

They have to be taken for a lifetime. The children's hormone levels must be checked at regular intervals using a blood test so that any deviations from the normal values ​​can be detected immediately. If the intake is interrupted and this leads to a renewed deficiency of hormones, the familiar symptoms of cretinism can also develop later.

If the treatment is carried out early and consistently throughout life, the child can develop completely normally. If, on the other hand, developmental disorders have already occurred, these cannot be reversed since the damage caused by cretinism is irreversible.

Outlook & forecast

If the diagnosis is made early, the prognosis for cretinism is favorable. The child's developmental disorder can be adequately treated with appropriate hormones. It is important to have drug therapy as soon as possible, which should begin in the first few weeks or months of life. The later the supply of hormones begins, the more difficult the further course is.

In these cases it is no longer possible to intervene adequately in the development of the organism. Lifelong physical and mental disorders are the consequences. A short stature is to be expected and there will also be mental impairments that are irreversible. Without medical care, there is no relief from the symptoms. The prognosis is worse because there are currently no alternative healing methods and the self-healing powers of the organism are insufficient for this disorder.

The improvement in health is therefore only achieved in cooperation with the doctors. Long-term therapy is used, as the prescribed hormones must be supplied to the organism for life. This is the only way to ensure an improvement in health. If the therapy is discontinued, various complaints arise that lead to a significant deterioration in quality of life. In addition, the risk of secondary diseases is increased. This fact must be taken into account when making the overall forecast.

prevention

One can cretinism prevent it by giving thyroid hormones early. In Germany, the routine examination of the thyroid gland in newborns is regulated by law. This allows cretinism to be recognized and treated early on. Pregnant women with an underactive thyroid can prevent their child's cretinism by taking drugs containing iodine.

Aftercare

In the case of cretinism, there are usually no special follow-up measures available to those affected. In the case of this disease, a very early diagnosis with subsequent treatment is important so that the symptoms can no longer worsen. Self-healing is usually not possible with cretinism, so that treatment must always be carried out by a doctor.

As a rule, people with cretinism must take various medications throughout their lives to relieve the symptoms. It is always important to take it regularly and to continue to use the correct dosage. Should there be any ambiguities or other questions, a doctor must be contacted first.

Regular examinations by a doctor are also very important in cretinism so that no further complications can occur. Since the disease can also have a very negative effect on the child's development, parents should pay particular attention to this and also inform a doctor. In many cases these can then be alleviated. The child itself is usually dependent on the help and care of the parents.

You can do that yourself

In the case of cretinism, the most effective self-help measure is to have the disease diagnosed and treated early on. Parents who notice symptoms of thyroid disorder in their child should consult their pediatrician immediately. If the disorder is treated early with hormones, normal physical and mental development is possible. The parents and later the person concerned must ensure that they take the medication regularly. Otherwise, you may experience serious symptoms later.

If developmental disorders have already occurred, therapeutic treatment is indicated. Parents should seek placement in a special kindergarten and later in a special school at an early stage. Adjustments also have to be made in everyday life, be it through orthopedic aids or through a disabled-friendly facility. Which measures are sensible and necessary depends on the severity of the developmental disorder and the symptoms.

Basically, the child should be informed about his illness as early as possible, because an open approach facilitates the therapeutic measures and the entire life with the various restrictions that cretinism can bring. Therapeutic advice can also take place alongside this.