Cretinism is a hormone deficiency disorder of physical growth and mental development in newborns. The deficiency can be easily identified by examining the infant at an early stage. Treated children develop completely normally.
What is cretinism?
Cretinism manifests itself in the first few 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 neonatal jaundice can occur. See AbbreviationFinder for abbreviations related to Cretinism.
Cretinism is a developmental disorder in children that is caused by a lack of thyroid hormones. The term derives from the French word crétin = idiot.
This name came about because the lack of hormones in the brain of the patient leads to irreversible damage and thus to reduced mental performance. There are two types of cretinism. The endemic (locally limited) form only occurs in certain areas and is caused by the mother’s iodine deficiency in the child during pregnancy. The iodine deficiency is caused by the local conditions in regions where there is little or no iodine in the soil and in the air.
Endemic cretinism is the form that is most common. Sporadic (occasionally occurring) cretinism is much rarer and is caused by a genetic disorder of the thyroid gland. Today, the disease no longer occurs in western countries because the hormone levels of newborns are routinely checked and cretinism can be prevented with the administration of hormones.
Cretinism results from 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 for the thyroid to produce hormones. These hormones are needed for physical growth and the development of mental abilities. A lack of hormones means that the embryo does not develop normally. Very rarely, cretinism can also be caused by an excess of iodine, for example if the mother takes too many iodine-containing medications due to hypothyroidism.
Genetic cretinism in children is caused by congenital hypofunction of the thyroid gland, 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 few 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 neonatal jaundice can occur. Affected infants are also often apathetic, drink little and have flabby muscles. If these symptoms are not treated, pronounced cretinism quickly develops.
This leads to developmental disorders of bones and teeth, which can result in shortened fingers and damage to the dentition and periodontium. As the disease progresses, myxedema develops. The skin of the sick children then appears swollen and doughy, especially in the area of the eyelids and hands. Accompanying this, cretinism leads to a weakness in the 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 conspicuously marbled relatively quickly. Macroglossia can develop in the mouth – a severe enlargement of the tongue that is associated with feeding and breathing problems. Cretinism also causes muscle weakness and hoarseness. If there is no treatment by then at the latest, further physical complaints and mental development disorders will set in.
Diagnosis & History
The symptoms of cretinism are only noticeable 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 (icterus).
In the third week of life, an umbilical hernia often forms and the infant’s tongue swells. Muscle reflexes are weak, the voice is hoarse and digestion is disturbed. If the child is not treated, short stature is to be expected as the disease progresses, with the size of the arms and legs not being in proportion to the size of the trunk. The fingers are too short, the nose is turned up and speech development is disturbed.
However, since cretinism can be easily diagnosed with a blood test, it is almost completely absent in countries with routine newborn screening. If hormone levels are found to be too low, the doctor will examine the child’s thyroid function, formation and location in order to then initiate the correct treatment of the cretinism.
In most cases, cretinism can be treated relatively well and easily. However, early treatment is necessary to prevent complications and other consequential damage. Those affected primarily suffer from a developmental disorder as a result of cretinism. This is very dangerous, especially for children. Growth disorders in children can also occur as a result of cretinism and also have a negative impact on bone structure.
The skin often turns yellow, so that the complaint can also be confused with jaundice. Furthermore, there is also a strong increase in weight and not infrequently also a drinking disorder. The patients then continue to suffer from dehydration, which can have a very negative effect on the entire body. The patients can also suffer from short stature.
Especially at a young age, the symptoms can therefore 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 course of the disease is positive. The life expectancy of the affected person is not affected if the treatment is successful.
When should you go to the doctor?
If there is a suspicion that cretinism is present, a visit to the doctor’s office is recommended. The condition does not heal by itself 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 is no longer drinking enough, you should go straight to the pediatrician.
Depending on the cause of the cretinism and how severe the symptoms are, other specialists sometimes have to be called in. Early treatment is also necessary here. In any case, the parents of affected children should strive for a quick diagnosis and therapy in order to avoid further complications or to minimize them. A therapist may also be consulted later in life because of the psychological problems that 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 treating it as early as possible. The treatment consists of administering artificially produced thyroid hormones in the form of tablets.
They have to be taken for life. 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 lack of hormones, the well-known 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, they can no longer be reversed, since the damage caused by cretinism is irreversible.
Outlook & Forecast
With early diagnosis, the prognosis of cretinism is favorable. The child’s developmental disorder can be adequately treated with the administration of appropriate hormones. What is important is the fastest possible drug therapy, 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.
In these cases, it is no longer possible to sufficiently intervene in the development of the organism. Lifelong physical and mental disorders are the consequences. Short stature is to be expected and mental impairments that are irreversible also occur. Without medical care, no relief of the symptoms can be assumed. The prognosis is worse because there are currently no alternative healing methods and the self-healing powers of the organism are not sufficient for this disorder.
Health improvement is therefore only achieved in cooperation with doctors. It comes to a long-term therapy, since 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 symptoms occur that lead to a significant deterioration in the quality of life. In addition, the risk of secondary diseases is increased. This circumstance must be taken into account when making the overall prognosis.
Cretinism can be prevented by the early administration of thyroid hormones. In Germany, the routine examination of the thyroid gland in newborns is regulated by law. As a result, cretinism can be recognized and treated early. Pregnant women with hypothyroidism can prevent their child from developing cretinism by taking medication containing iodine.
In the case of cretinism, those affected usually have no special aftercare measures available. In the case of this disease, a very early diagnosis with subsequent treatment is primarily important so that the symptoms can no longer worsen. Self-healing is usually not possible with cretinism, so that treatment by a doctor must always take place.
As a rule, those affected by cretinism have to take various medications throughout their lives in order to alleviate the symptoms. It is always important to ensure that it is taken regularly and that the dosage is correct. If there are any ambiguities or other questions, a doctor must be contacted first.
Regular examinations by a doctor are also very important for cretinism so that no further complications can occur. Since the disease can also have a very negative effect on the development of the child, parents should pay particular attention to this and also report this to 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 clarified and treated at an early stage. Parents who notice symptoms of a thyroid disorder in their child should consult the pediatrician immediately. If the disorder is treated early with the administration of hormones, normal physical and mental development is possible. The parents and later the person concerned must ensure that the medication is taken regularly. Otherwise, serious symptoms can occur later.
If developmental disorders have already occurred, therapeutic treatment is indicated. Parents should try to find accommodation in a special kindergarten and later in a special school at an early stage. Adjustments must also be made in everyday life, be it through orthopedic aids or through a facility suitable for the disabled. Which measures are useful and necessary depends on how severe the developmental disorder is and what symptoms occur.
Basically, the child should be informed about his illness as early as possible, because an open approach facilitates the therapeutic measures and life as a whole with the many restrictions that cretinism can bring with it. In addition, a therapeutic consultation can take place.