Cretinism is.. Symptoms, treatment, prevention and diagnosis

Short stature and disproportion of the skull, incorrect body proportions, a very rounded face, pronounced mental retardation - all this speaks of cretinism. Below in the article you will find the causes of the disease; the doctors who treat him; necessary medical procedures for treatment; as well as general information about the disease, its localization, features of diagnosis of diseases and their treatment. However, we advise you to consult a doctor, because self-medication is 90% fraught with complications

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Cretinism. general information

Cretinism (congenital hypothyroidism) is an endocrine disease characterized by congenital hypofunction of the thyroid gland. Cretinism manifests itself in delayed physical and mental development, dementia.

When treating Cretinism, doctors at the BIOSS clinic use both time-tested and the latest developments and proprietary techniques.

The BIOSS MC employs the best doctors in Moscow who have extensive experience in the treatment of Cretinism

The macroscopic picture reveals asymmetry and microcephaly of the brain, a small number of convolutions, thickening of the soft and dura mater. The cavities of the cerebral ventricles are somewhat dilated and filled with fluid, and the ependyma is thickened. Brain weight is changed. The microscopic appearance of the brain in cretinism is largely unknown. There are often chronic changes in degenerative cell type in the ganglia.

There are no specific histological changes observed in the thyroid gland. Often, degenerative and atrophic processes are detected in the parenchyma of the gland and the proliferation of its connective tissue. Signs of cretinism are presented in the form of facial anomalies and growth disorders that affect both skeletal bones and soft tissues.

Diagnostics

The effectiveness of therapy and adaptation directly depends on the stage at which the diagnosis is made. It needs to be placed as early as possible. If time is lost, global irreversible pathological processes occur in the body.

At the first suspicion, a test is required. It should be carried out in the first three days after birth. Blood is taken from the leg (heel), which can be used to identify genetic disorders. It is important to check how well the thyroid gland copes with its functions.

The difficulty of diagnosis lies in the fact that the symptoms of cretinism are similar to a number of other diseases. To determine how developed the thyroid gland is, an analysis is prescribed to measure the level of the hormone thyroxine. An x-ray of the condition of the legs is also taken. It helps to determine whether the level of hardening of the feet is normal. A general blood test will help complete the picture. Ultrasound reveals the size of the gland, location, structure, and possible congenital pathologies.

Signs of cretinism in adults

• Changes in size, disproportion of the skull due to disruption of its growth. Despite the fact that the head appears disproportionately large in relation to the body, cretinism is characterized by microcephaly - a decrease in the size of the cranial cavity and brain.
• Short stature. The height of patients with cretinism may vary, but in general it is significantly lower than that of a healthy person.
• Violation of body proportions. In 25% of cases, patients with cretinism have a correct proportional physique. The remaining 75% have imbalances. The arms and legs are shortened in relation to the body and have a large thickness. Due to this, the patient's movements are awkward. The joints are massive, thickened, and often curved. The palms are wide and the fingers are short. The feet are often turned inward, and clubfoot is noted.
• There is impaired mobility in the spine and various joints. Almost all patients have a narrow pelvis.
• With cretinism, the growth of the base of the skull is impaired, so the back of the patient’s nose becomes wide and sunken, and the distance between the eyes is increased.
• The patient's face has a characteristic appearance and is rounded. This occurs due to subcutaneous swelling.
• The forehead is covered with wrinkles, which makes the patient seem older than he actually is.
• Little hair grows on the patient's body; it is coarse and usually dark black in color.
• Other characteristic facial features: high forehead, wide cheekbones, protruding ears, large lips, constantly protruding tongue.
• All patients, to one degree or another, have mental retardation. Sometimes it can occur in the form of idiocy, when the patient is not able to care for himself.
• With cretinism, there is a decrease in size and insufficient function of the gonads. As a result, many patients are infertile.
• Hearing and speech impairment. They can be very pronounced, even to the point of deaf-muteness.
• Apathy, lethargy, drowsiness, mental disorders to varying degrees.

Why does the body need iodine?

Iodine can prevent the development of this pathology. If the function of thyroid hormone production is impaired, the child develops an acute iodine deficiency over time.

A normal level of iodine in a pregnant woman’s body is extremely important. This is the key to health and proper development of the fetus. This element is involved in the formation of the nervous system. If a deficiency develops, pathologies in the development of the inner ear, even the cerebral cortex, occur. If the cortex is formed incorrectly, the child incorrectly builds associations on which the entire thinking process is subsequently built. If there is a pathology in the development of the inner ear, deafness is observed. Violation of spinal motility entails the development of spasm, movements become slow, and immobility occurs over time.

Blood test for hormones

If cretinism is suspected, two groups of hormones are examined in the blood:

• thyroid hormones;
• pituitary hormones.

Changes in the levels of various hormones in cretinism:

This condition is known as transient, or temporary, hypothyroidism. The level of thyroid hormones decreases temporarily and then recovers again; cretinism does not develop. In this case, there is a slight decrease in the level of thyroid hormones in the blood and a slight increase in the level of thyroid-stimulating hormone of the pituitary gland. This result is considered doubtful, so the study is repeated after some time. Many clinics conduct screening studies, that is, blood is taken from every newborn for analysis. Where screening is not carried out, in maternity hospitals blood is taken for analysis from children who have at least two symptoms of the disease after birth. In sick children aged 4–6 months, the level of fats and cholesterol in the blood increases. This may also be indirect evidence of the presence of the disease. To identify pathological changes, a biochemical blood test is performed. When performing a general blood test, some patients are found to have anemia.

Causes

There is no final opinion yet regarding the reasons.

Often the disease is provoked by iodine deficiency, but this is not the only reason. Not everyone who lives in a potentially dangerous area gets a goiter, so it is believed that this is not the main reason.

Scientists are inclined to believe that the main reason is genetic predisposition, because in endemic areas there are many healthy families. Those children who have both parents suffering from this pathology are susceptible to cretinism. If the disease is observed in both mother and father, there is an extremely high probability that their child will suffer from cretinism.

An important role is played by which parent suffers from the disease.
The pathology is transmitted through the fertilized egg from a sick mother. The father may be completely healthy. A sick mother often gives birth to sick children, while a healthy mother gives birth to completely healthy children from a sick father .
Scientists have also found that cretinism can be transmitted from sick animals. Another reason is treatment with certain drugs (Carbimazole, Amiodarone) without medical advice, excessive iodine consumption, radioactive treatment that affected the thyroid gland.

Treatment of cretinism in children and adults

Treatment of cretinism and any type of hypothyroidism in a child should begin from the moment the diagnosis is made. The earlier therapy is started, the more favorable the prognosis. In case of insufficiency of thyroid function, so-called replacement therapy is carried out. The patient is prescribed hormones that should restore impaired functions. These drugs are effective for all types of hypothyroidism, except those caused by impaired tissue sensitivity to thyroid hormones. Sometimes the clinic’s capabilities do not allow you to immediately take tests and make an accurate diagnosis. If there are external signs of cretinism, then treatment is carried out without test results, and then they act based on how the patient’s condition changes during therapy. If treatment is started in the first month of life, then the disease can be controlled: the child develops completely normally. If therapy is prescribed later than 4–6 weeks, then there is a high probability of mental retardation and other complications. Drugs used to treat cretinism in children :

Kinds

Cretinism most often occurs in children, but for a number of reasons it can develop in adults.

The following types are distinguished:

1. Endemic cretinism. It begins its development in the fetus in the womb. The reasons are iodine deficiency, goitrogenic elements in the food of the expectant mother. It happens that the fetus has a genetic predisposition. Much depends on the area where the parents live. If the locality is endemic, cases of goiter are common here, then the risk of cretinism increases. There is a high degree of probability of a sick child appearing in a situation where close blood relatives become parents.
2. Sporadic. Caused by hereditary abnormalities of the enzyme systems that produce thyroid hormones. The development of the thyroid gland is disrupted at the embryonic level. The terrain in this case does not play a decisive role.

There is another classification. According to it, the disease cretinism has the following forms:

1. Hypothyroidism oligophrenia (cretinism). It can be congenital or occurs in early childhood. More often this is the result of endocrine disorders.
2. Myxedema. The result of a malformation of the embryo, the death of thyroid tissue. This form progresses rapidly in the first months after birth.
3. Neurological. Happens frequently. This form affects those who live in areas with high iodine deficiency. There are no pronounced manifestations of hypothyroidism.

Sources

1. Osokina I.V. Epidemiology of iodine deficiency diseases in Siberia. 2005. Pacific Medical Journal;
2. Sviridonova M. A. Iodine deficiency, formation and development of the body. 2014. Clinical and experimental thyroidology;
3. Platonova Nadezhda Mikhailovna Iodine deficiency: current state of the problem. 2015. Clinical and experimental thyroidology;
4. Kochergina I.I. Endemic goiter and other iodine deficiency diseases. 2008. Medical Council;
5. Petunina N.A., Telnova M.E. Iodine deficiency diseases: a modern approach to prevention Petunina N.A., Telnova M.E.. 2016. Gynecology;
6. Sapozhnikova I. E., Nemtsov B. F. Iodine deficiency: current state of the problem. 2007. Vyatka Medical Bulletin.

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Prevention

Among the preventive measures, it is worth remembering the following:

• Since cretinism often develops in marriage between close relatives, such unions are unacceptable.
• If a family lives in an area unfavorable in terms of iodine levels, it is sometimes advisable to move to another area. This especially applies to those cases where frequent cases of goiter in children have been identified in the area.
• It is necessary to monitor the quality of drinking water. If it's bad, consider buying bottled drinking water.
• If you have iodine deficiency, you should consume iodized salt and foods containing it.
• During pregnancy, the diet must include foods rich in iodine (feijoa, cod liver, seafood, champignons, dairy).
• Children are prescribed vitamin D and a preparation with iodine for prevention. They strengthen bones well and prevent rickets from developing. Natural feeding is also recommended. Breast milk contains a whole complex of vitamins and microelements.

Problems with the thyroid gland do not exclude the possibility of pregnancy and pregnancy. A prerequisite for this is constant monitoring by an endocrinologist.

Forecast

Most often, with timely treatment, one can hope for a favorable outcome.

An unfavorable prognosis will occur if:

1. body cells are insensitive to thyroid hormones;
2. A malignant tumor causing hypothyroidism was identified.

So, cretinism is not an offensive insult, but a medical diagnosis. It must be taken very seriously. To avoid encountering such a pathology, you should think about preventive measures in a timely manner. Adding iodized salt to salads and dishes significantly reduces the risk of disease.

What is the prognosis for patients?

Cretinism is an extremely dangerous disease, as it can even lead to disability. However, most often with early diagnosis and proper treatment, the patient can be helped. Normalizing the functioning of the thyroid gland and pituitary gland leads to the elimination of metabolic disorders.

However, complications cannot be avoided in all cases. For example, if therapy is started late, brain damage remains. And some genetic diseases are difficult to treat even with symptomatic treatment.