Cretinism is a disorder of body growth and mental development in newborns caused by hormone deficiency. The deficiency can be easily detected by early examination of the infant. Treated infants develop completely normally.
What is cretinism?
Cretinism is a developmental disorder in children caused by a deficiency of thyroid hormones. The term is derived from the French word crétin = idiot. This name came about because the hormone deficiency leads to irreversible damage in the brain of the sufferer and thus to low mental capacity. There are two types of cretinism. The endemic (localized) form occurs only in certain areas and is caused by iodine deficiency of the mother already during pregnancy in the child. The iodine deficiency is caused by local conditions in regions where there is no or very little iodine in the soil and air. The endemic cretinism is the form that occurs most frequently. Sporadic (isolated) cretinism is much rarer and results from a genetic disorder of the thyroid gland. Today, the condition does not occur at all in Western countries because the hormone levels of newborns are routinely tested and cretinism can be prevented with the administration of hormones.
Causes
Cretinism results from a deficiency of thyroid hormones. In endemic cretinism, a deficiency of iodine in the mother is responsible for the unborn child being behind in both physical and mental development. The body needs iodine for the thyroid gland to produce hormones. These hormones are needed for body growth and mental development. A lack of hormones causes the embryo not to develop normally. Very rarely, cretinism can also result from an excess of iodine, for example, if the mother takes too much iodine-containing medication because of hypothyroidism. Cretinism, which is genetic in the child, is caused by congenital hypothyroidism, displacement of the thyroid gland, or by an incomplete or even absent thyroid gland. Certain enzyme defects can also affect the production of hormones, causing cretinism.
Symptoms, complaints, and signs
Cretinism manifests itself in the first weeks of life through various symptoms, although these are not yet clearly attributable to a thyroid defect. Thus, general complaints such as constipation, a slowed heartbeat, or neonatal jaundice may occur. Affected infants are also often apathetic, drink little and have flabby muscles. If these signs of the disease are not treated, full-blown cretinism develops rapidly. This leads to developmental disorders of bones and teeth, which can result in shortened fingers and damage to the dentition and periodontium. In the further course of the disease, myxedema develops. The skin of the affected children then appears swollen and pasty, especially in the area of the eyelids and hands. Accompanying cretinism leads to a weakness of the connective tissue, which can be manifested, among other things, by a large abdomen and an umbilical hernia. The skin changes make the skin appear dry and noticeably marbled relatively quickly. In the oral cavity, macroglossia may develop – a severe enlargement of the tongue, which is associated with problems with food intake as well as breathing difficulties. Furthermore, muscle weakness and hoarseness occur in cretinism. If no treatment is given by then at the latest, further physical complaints as well as mental developmental disorders set in.
Diagnosis and course
The symptoms of cretinism are not detectable until after birth, approximately in the first two weeks of life. Due to the lack of hormones, the newborn’s bones do not mature properly, and the infants appear puffy (myxedema) and have a yellowish skin color (jaundice). By the third week of life, an umbilical hernia often forms and the infants’ tongues swell. Muscle reflexes are weak, the voice is hoarse, and digestion is impaired. If the child is not treated, short stature is to be expected as the disease progresses, with the size of the arms and legs out of proportion to the size of the trunk. The fingers are too short, the nose turns up and speech development is disturbed.However, since cretinism is easily diagnosed with a blood test, it is almost non-existent in countries with routine neonatal screening. If hormone levels are found to be too low, the physician will examine the child’s thyroid gland for function, formation, and location, and then initiate proper treatment for cretinism.
Complications
In most cases, cretinism can be treated relatively well and easily. However, early treatment is necessary in this case to prevent complications and other secondary damage. The affected persons suffer primarily from a developmental disorder due to cretinism. This is especially dangerous in children. Growth disorders of children can also occur due to cretinism, negatively affecting the bone structure. It is not uncommon for the skin to turn yellow, so that the complaint can also be mistaken for 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. Furthermore, the patients may also suffer from short stature. Especially at a young age, the complaints can therefore lead to teasing or bullying. Hormones can be used to combat the symptoms of cretinism relatively easily. Complications do not occur and the course of the disease is positive. The life expectancy of the affected person is not affected if treatment is successful.
When should one go to the doctor?
If cretinism is suspected, a visit to the doctor’s office is recommended. The condition does not heal by itself and can cause various ailments if not treated. 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 not drinking enough, it should go directly to the pediatrician. Depending on the cause of the cretinism and the severity of the symptoms, other specialists may sometimes need to be involved. Here, too, early treatment is necessary. So, in any case, parents of affected children should strive for a quick diagnosis and treatment to avoid or minimize further complications. Later in life, a therapist may also be consulted because of the psychological problems that cretinism sometimes causes. Other points of contact include internists, nutritional physicians, and a specialist thyroid clinic.
Treatment and therapy
The progressive symptoms of cretinism can be prevented with the earliest possible therapy. Treatment consists of administering artificially produced thyroid hormones in the form of tablets. They must be taken for life. The children’s hormone levels must be checked at regular intervals with the help of a blood test so that any deviations from normal values can be detected immediately. If intake is interrupted and a hormone deficiency occurs again as a result, the familiar symptoms of cretinism can still 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 abnormalities have already occurred, they cannot be reversed because the damage caused by cretinism is irreversible.
Outlook and prognosis
If diagnosed early, the prognosis of cretinism is favorable. The child’s developmental disorder can be adequately treated if appropriate hormones are administered. For this purpose, it is important to provide drug therapy as soon as possible, which should begin in the first weeks or months of life. The later the supply of hormones begins, the more difficult is the further course. In these cases, it is no longer possible to intervene sufficiently in the development of the organism. Lifelong physical and mental disorders are the consequences. Short stature is to be expected and, in addition, mental impairments occur that are irreversible. Without medical care, no alleviation of the symptoms can be assumed.The prognosis is worsened, because at present there are no alternative cures and the self-healing powers of the organism are not sufficient for this disorder. Therefore, the improvement of health is achieved exclusively in cooperation with physicians. It comes to a long-term therapy, because the prescribed hormones must be supplied to the organism for life. This is the only way to ensure improvement of health. If the therapy is discontinued, various complaints occur, which 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 accordingly when making the overall prognosis.
Prevention
One can prevent cretinism by early administration of thyroid hormones. In Germany, routine thyroid screening of newborns is regulated by law. This allows early detection and treatment of cretinism. Pregnant women with hypothyroidism can prevent their child’s cretinism by taking iodine-containing medications.
Follow-up
There are usually no special aftercare measures available to the affected person with cretinism. In this disease, first and foremost, a very early diagnosis with subsequent treatment is important so that no further deterioration of the symptoms can occur. Self-cure is usually not possible with cretinism, so treatment by a doctor is always required. As a rule, those affected by cretinism must take various medications throughout their lives to alleviate the symptoms. It is important to ensure that the medication is taken regularly and in the correct dosage. If there are any uncertainties or other questions, a doctor must be contacted first in any case. Likewise, regular examinations by a doctor are very important in the case of 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 special attention to these and also report them 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.
This is what you can do yourself
For cretinism, the most effective self-help measure is to have the condition diagnosed and treated early. Parents who notice symptoms of thyroid disorder in their child should consult the pediatrician immediately. If the disorder is treated early by administering hormones, normal physical and mental development is possible. For this, the parents and later the affected person themselves must ensure that the medication is taken regularly. Otherwise, serious symptoms may still occur later. If developmental disorders have already occurred, therapeutic treatment is indicated. Parents should seek early placement in a special kindergarten and later in a special school. Adjustments must also be made in everyday life, whether through orthopedic aids or furnishings suitable for the handicapped. Which measures are sensible and necessary depends on how pronounced the developmental disorder is and which complaints occur. In principle, the child should be informed about his or her disorder as early as possible, because an open approach facilitates the therapeutic measures and the entire life with the many restrictions that cretinism can bring. This can be accompanied by therapeutic counseling.
