What is dangerous and how is hypothyroidism detected in children. Diagnosis and control measures for congenital childhood hypothyroidism Congenital hypothyroidism causes

Congenital hypothyroidism is one that is increasingly common in newborns. With such a disease, the thyroid gland does not produce enough thyroid hormones, which greatly inhibits the normal development of all organs and systems. In the absence of proper treatment, the nervous system first of all suffers, which negatively affects mental development. Favorable forecasts regarding this issue can only be started after a month has passed since the start of therapy. That is why the problem of early detection of the disease is particularly acute. In the first months of life, the infant develops rapidly, while hypothyroidism in a child significantly slows down this process.

Congenital hypothyroidism in Europeans occurs in about one newborn in four or five thousand children, in Asians - less often, one person out of six to seven thousand suffers from the disease. For representatives of the Negroid race, such a disease is practically not typical.

By gender, the disease is more characteristic of girls than boys, for every male suffering from hypothyroidism, there are two female representatives.

Causes of the disease

Since the function of the thyroid gland cannot decrease on its own, different causes of hypothyroidism in children are distinguished:

• If the child was still in the womb at the time of the appearance of disturbances in the development and subsequent functioning of the thyroid gland, then we can say that the disease is hereditary. This condition is quite dangerous, since the mother's body produces thyroid hormones only in the first weeks of pregnancy, after this period the developing thyroid gland in the fetal body begins to work independently, helping the organs and their systems to develop properly. A severe deficiency of hormones can lead to serious physical and mental abnormalities, and in newborns, congenital hypothyroidism is guaranteed in this case.
• With the immunity of the thyroid gland itself to iodine obtained from food, the substances necessary for the production of thyroid hormones cease to enter the organ, which inevitably leads to the onset of the disease.
• In the presence of endocrine diseases that affect the pituitary gland and, the normal regulation of hormone secretion in the body is disrupted, which causes disruption in the production of thyroid hormones.
• If the mother has taken thyroid hormone-lowering drugs during pregnancy, this can lead to the body becoming unresponsive to thyroid hormones.

Classification

Childhood hypothyroidism is divided into two main groups:

• Congenital hypothyroidism, which appeared even in the womb - after birth, the baby has a serious lack of thyroid hormones, as a result of which the child lags behind in development and requires immediate treatment.
• Acquired hypothyroidism in children can develop due to a lack of iodine, surgery on the thyroid gland, with thyroiditis, and exposure to certain medications.

According to the severity of the disease is divided into:

• Transient, which is detected during the first examination - the level of thyroid-stimulating hormone is increased, and the concentration of thyroid hormones is lowered. Usually, with the start of timely treatment, this condition resolves rather quickly.
• Subclinical, in which the thyroid gland is already affected, but no obvious symptoms have yet been observed. The disease can only be diagnosed with a blood test.
• With manifest, there is a deficiency of thyroid hormones against the background of an increase in the level of thyroid-stimulating hormone. The disease is accompanied by all the symptoms that are quite pronounced.

If we consider the disease in terms of the level of impaired hormone secretion, then we can distinguish:

• Primary, or thyroid, the cause of which is the pathology of the thyroid gland, in which it begins to secrete a much smaller amount of hormones than necessary. This is the most common type of hypothyroidism in children.
• Secondary, or pituitary. The pituitary gland and the thyroid gland are inextricably linked, so the pathology of the pituitary gland will inevitably lead to disturbances in the production of thyroid hormones. This type of disease is quite rare.
• Tertiary, or hypothalamic. In this case, the cause of the disease is a violation of the activity of the hypothalamus.

Pathogenesis

During development inside the womb, the fetus receives the necessary amount of hormones from the mother, they are enough for the normal growth of all tissues and organs. If, for some reason, at the moment when the mother's body stops supplying thyroid hormones to the fetus, its thyroid gland is unable to provide the body with a vital substance, the cerebral cortex does not develop fully, which may cause mental retardation and.

At birth, the level of thyroid hormones in the body drops sharply, which only exacerbates the situation. Often, underdevelopment and congenital hypothyroidism become the reason that parents decide to send him to an orphanage or a specialized boarding school, but in fact, treatment started on time helps to cope with the problem.

Symptoms

Parents of children under the age of one need to be competent in matters of hypothyroidism in children, the symptoms of which at this age differ from the manifestations of the disease in adults. Signs of hypothyroidism in children are as follows:

• At birth, the child has a rather large weight, more than four kilograms, there is swelling of the face and eyelids, crying is hoarse and rough, breathing is heavy. These are the main signs to suspect hypothyroidism in newborns even before the first screening.
• Jaundice does not stop for a long time, the sucking reflex is very weakly expressed. The umbilical wound does not heal.
• The child does not gain weight for a long time, growth is much less than necessary.
• For a long time the baby does not hold his head, cannot sit, the basic skills remain unformed.
• The patient does not show interest in the world, does not want to communicate, does not make sounds typical for babies, does not play and does not contact other people, abrupt mood swings and capriciousness are characteristic.
• Immunity is not developed, the body is prone to frequent infectious diseases.

Timely diagnosis of congenital hypothyroidism, the symptoms of which are quite clearly visible in the first months of a child's life, helps to prescribe the right treatment that will save the little person.

Diagnostics

On the fourth or fifth day of life, a newborn is necessarily sent for screening, which determines the amount of thyroid-stimulating hormone in the blood, even if there is no suspicion of the presence of congenital hypothyroidism in children.

With an increased concentration of this substance, the child is sent for further examinations to exclude the possibility of congenital hypothyroidism. In this case, an ultrasound examination is performed and, which detect pathologies in the shape, size and location of the organ.

Differential diagnosis of hypothyroidism in children is based on laboratory indications, according to the results obtained, the type of hypothyroidism that a person suffers from is determined:

• Primary form: the level of TSH is above normal, the concentration of thyroid hormones is below normal;
• Secondary and tertiary form: TSH is low or normal, thyroid hormones are low.

Treatment

Treatment of hypothyroidism in children should begin in the first weeks of life, immediately after the diagnosis is made, since delay in this matter can cause irreversible changes in the child's body. For hypothyroidism in children, treatment consists in taking synthetic analogues of substances produced by the thyroid gland. In addition, vitamin preparations, nootropics, proper nutrition and massage sessions and physiotherapy exercises are additionally prescribed. Often, with congenital hypothyroidism, mental retardation develops, if it is present, a cure is no longer possible, taking hormonal drugs can only slightly improve the patient's condition.

Forecasts

The endocrinologist is the one who knows everything about the symptoms and treatment, it is he who must carefully monitor the children and immediately prescribe medical examinations if congenital hypothyroidism is suspected. If timely treatment is started, the symptoms of the disease will quickly subside, and the child will begin to grow normally without mental and physical retardation. With hypothyroidism, a favorable outcome is possible only with constant monitoring, when each manifestation of the disease is recorded and treated. The child should eat well, engage in physical therapy, and spend the summer away from the hot sun, which can provoke an exacerbation of the disease.

Bibliography

1. TESTOSTERONE AND QUALITY OF LIFE OF A WOMAN KHAIDAROVA F.A., NIGMATOVA S.S.
2. Whitehead H.M., Boreham C., McIlrath E.M. et al. Growth hormone treatment of adults with growth hormone deficiency: results of a 13-month placebo controlled cross-over study // Clin Endocrinol (Oxf) 1992; 36:45-52.
3. Rosen T., Bengtsson B.A. Premature mortality due to cardiovascular disease in hypopituitarism // Lancet 1990; 336:285-288.
4. Rosen V.B. Fundamentals of endocrinology.
5. The role of vasomotor and no-producing functions of the endothelium in the development of menopausal disorders in postmenopausal women 2012 / Kolbasova E. A.

Roman is a bodybuilding trainer with over 8 years of experience. He is also a nutritionist, among his clients there are a lot of famous athletes. Roman is with the author of the book "Sport and nothing but ..

Congenital hypothyroidism is a chronic disease in which the functioning of the thyroid gland is disrupted. As a result, the latter produces a small amount of hormones. Why does this happen in babies? What is the danger of the disease? And how to treat congenital hypothyroidism in children?

What is an ailment?

The thyroid gland is the most important organ in the human endocrine system. It performs many functions necessary for the full development of the child. The brain receives all information from the outside through the perception of sounds, smell, light. The human body functions with the help of hormones - biochemical substances. The neuroendocrine system acts as an intermediary between the brain and the body.

The main organs that process all information are the pituitary gland and the hypothalamus. It is they who give the thyroid gland a “command” about which hormone the body needs.

It is difficult to even imagine how many functions this gland performs. The main ones are the following:

• control over body temperature and metabolism;
• synthesis of vitamin A in the liver;
• participation in the development of intelligence;
• lowering cholesterol;
• stimulation of the growth process in children;
• regulation of calcium metabolism, as well as fats, carbohydrates and proteins.

Thus, this organ contributes to the full development of the baby's body. At the same time, it plays one of the leading roles in the formation of the nervous system and skeleton. A healthy gland produces two types of hormones:

• thyroxine (T4);
• triiodothyronine (T3).

Just think about what happens to the body if the thyroid gland is disturbed. After all, with the diagnosis of "congenital hypothyroidism" in newborns, the production of the above hormones decreases. Their deficiency seriously affects the functioning of the whole organism. Lack of hormones can lead to inhibition of the mental and physical development of the baby, growth slows down. The baby gains excess weight, he develops chronic fatigue syndrome, energy decreases, heart rhythm and blood pressure are disturbed. In addition, the intestines malfunction, and bone fragility occurs.

Main reasons

Why does congenital hypothyroidism occur in children? There are many sources that provoke the appearance of the disease. Among them, physicians distinguish the main ones:

There are many sources leading to the development of a congenital disease. However, in most cases, the cause that provoked the illness in an infant remains unclear.

Main types

This disease is characterized by a decrease in the production of hormones by the thyroid gland, which are responsible for the metabolism in the body. Today, hypothyroidism is a common disease. It differs in different forms, stages of development.

The biggest problem is the possibility of a long asymptomatic course of the disease. And this leads to many complications, as a result of which the treatment becomes much more complicated.

Hypothyroidism can be caused by various factors. According to experts, the causes depend on the form of the disease. Today there are two of them:

• congenital;
• acquired.

Congenital hypothyroidism is usually transmitted during pregnancy. The thyroid gland is destroyed. After the birth of a baby, such a factor can provoke underdevelopment of the baby's central nervous system, mental retardation, and improper formation of the skeleton.

Acquired hypothyroidism can occur with a lack of iodine intake, after surgery to remove (partial or complete) the thyroid gland. Sometimes the disease provokes even your own immune system, which damages an important gland.

Classifying the pathological changes that occur in the thyroid gland, physicians distinguish the following types:

• secondary;
• tertiary.

Each of them has its own specific reasons. Primary hypothyroidism is an ailment provoked by factors that are directly related to the thyroid gland. These include the following:

• genetic defects;
• congenital pathologies of organ formation;
• a variety of inflammatory processes that directly affect the thyroid gland;
• iodine deficiency in the body.

The occurrence of a secondary form of the disease is associated with damage to the pituitary gland, in which it stops the production of TSH hormone. The main factors for the occurrence of the disease in this case are as follows:

• congenital underdevelopment of the pituitary gland;
• heavy and frequent bleeding;
• brain damage and infection;
• tumors in the pituitary gland.

The tertiary stage is provoked by problems in the work of the hypothalamus.

Signs and symptoms of the disease

Often in the first days of a child's life, hypothyroidism does not manifest itself. Symptoms of the disease appear only after a couple of months. By this time, both parents and doctors notice a clear developmental delay in the baby. However, in some babies, symptoms of congenital hypothyroidism can be observed already in the first weeks of life.

The most typical signs include:

• Large birth weight (the weight of the child is more than 3.5 kg).
• A post-term infant with all the associated symptoms (dry and wrinkled skin, long nails, lack of lubrication).
• Puffy face, lips, eyelids.
• Protracted jaundice.
• The supraclavicular fossae have edema in the form of dense pads.
• Half-open mouth, protruding tongue.
• Presence of signs of sexual immaturity.
• Severe discharge of the first feces.
• The rough voice of a baby, set low (when crying).
• Severe healing of the navel (often hernia).
• The triangle of the nasolabial region becomes cyanotic.

If treatment is not started in the first month of life, it is likely that the child will show mental, physical, speech and psycho-emotional underdevelopment. In medicine, this condition is called cretinism.

With insufficient treatment at the age of 3-4 months, other symptoms appear. They indicate that hypothyroidism is progressing. The symptoms of the disease are as follows:

• Decreased appetite.
• Violation of the swallowing process.
• Peeling of the skin.
• Chronic constipation.
• Muscle hypotension.
• Dryness and pallor of the skin.
• Brittle hair.

At an older age, the disease already has the following symptoms:

• Lag in mental, physical development.
• Change in facial expression.
• Late appearance of teeth.
• Low pressure.
• Rare pulse.
• Enlargement of the heart.

Diagnosis of the disease

It is quite difficult to determine an ailment in newborns, based solely on the symptoms. For these purposes, early screening in infants is carried out. It should be noted that for the detection of such a disease as hypothyroidism, tests are taken from all newborns in the maternity hospital. This happens when the child is 3-4 days old. Blood is taken from his heel to analyze the amount of the hormone (TSH). The result of the study, exceeding 50 mU / l, indicates a possible illness.

In addition, the diagnosis of hypothyroidism is made using the Apgar scale. This development is a test by which scores are summed up if the infant has certain signs. Consider the table below:

Congenital hypothyroidism in newborns can be suspected only if the total score is more than five.

Fundamentals of treatment

As soon as the diagnosis is confirmed, therapy should be started immediately. In this case, the likelihood of complications will be minimal. Treatment is mainly based on hormone replacement therapy. This will allow the body to function properly. Unfortunately, it will no longer produce thyroid hormones on its own. Hypothyroidism is a disease in which medication is taken for life.

If the dosage of the drug prescribed by the doctor is correctly selected for the child, he will begin to develop fully, practically not lagging behind other children in anything. In communication, in learning, such a child will not experience difficulties.

Babies who are diagnosed with congenital hypothyroidism are more susceptible to various viral diseases, because their immune system is quite weak. There may be a delay in physical development. This should be clearly understood so as not to demand from the child beyond his capabilities.

It is very important to visit your doctor regularly. The specialist will be able to identify any deviations in a timely manner. As a rule, they are easily disposed of by adjusting the dose of the drug. As the baby grows, his need for hormones increases. Again, only a doctor, based on the results of the tests, can prescribe a large dose of the drug.

Medical therapy

Drugs for hypothyroidism are prescribed only by the attending endocrinologist. It is strictly forbidden to select and take medications at your own discretion. As noted above, the basis of treatment is hormone replacement therapy. As a rule, such drugs are used:

• Levothyroxine sodium.
• "L-thyroxine".
• "Eutiroks".
• "Tiro-4".
• "L-thyroxine-acry".
• "L-thyroxine-Farmak".

The drug "Levothyroxine" is similar in chemical composition to the thyroid hormone. This distinguishes this drug from the rest.

As you know, this disease adversely affects the cognitive activity of the brain. In this regard, the treatment complex includes drugs to improve metabolism in the specified organ. Preference is given to the following drugs:

• "Piracetam" ("Lucetam", "Nootropil").
• "Aminalon" ("Ganevrin", "Encephalon", "Gammalon").
• "Pyriditol" ("Encephabol", "pyritinol").
• Mexidol.
• "Cerebrolysin".
• "Tanakan".

Babies with a congenital ailment must be observed by a psychologist, defectologist. A variety of methods aimed at correcting cognitive impairments (for example, game therapy) are widely used.

The following antianemic drugs are prescribed:

• iron preparations - Ferrum Lek, Ferroplex, Aktiferrin, Totema, Hemofer);
• folic acid;
• B vitamins.

• "Bisacodyl".
• "Lactulose".
• "Senade".
• Regulax.

However, with a properly selected dosage of hormones, the need for the last group of drugs, as a rule, disappears.

Diet

In addition to drug therapy, you should follow the right diet. Therapeutic nutrition implies a decrease in the energy value of the diet, as well as stimulation of oxidation processes in the body. If hypothyroidism is diagnosed, the diet is aimed at a significant reduction in the proportion of carbohydrates in the diet and some reduction in the use of fat.

• animal fat;
• meat (fatty), fish, caviar;
• animal entrails, brains;
• sour cream;
• butter;
• sugar, jam, honey;
• flour products.

It is these foods that contribute to the difficulty of digesting carbohydrates. The result is an emptying of the intestines. A large amount of vegetable fiber allows you to quickly get enough with a low energy value.

Proteins should be consumed without fail, as they stimulate the metabolism.

If a child suffers from constipation, it is advisable to introduce fermented milk products, such as yogurt, kefir, into his diet. Useful use of rye bread, beetroot juice, prunes.

The drug "Iodomarin"

It is this medicine that causes a lot of controversy. Doctors say that such a remedy as "Iodomarin" is contraindicated for use in hypothyroidism. However, some patients claim that they took the drug as prescribed by the doctor. And the medicine worked for them. What is the secret of this drug? And can it be used for hypothyroidism?

As the instructions say, the medicine is contraindicated in this disease. However, there is an exception to this recommendation. The drug can be prescribed for the treatment of hypothyroidism, if the latter is provoked by a lack of iodine in the body.

Just remember that the medicine "Iodomarin" (like all the drug therapy described above) should be selected exclusively by an endocrinologist. And only on the basis of test results.

Prevention

In order to avoid the occurrence of a congenital ailment, a pregnant woman is recommended to lead a correct lifestyle. All bad habits should be completely eliminated. Excessive load can also adversely affect the unborn child and disrupt the formation of the thyroid gland of the fetus.

If hypothyroidism is diagnosed in a future mother during pregnancy, then, accordingly, the gland will work more intensively. The result is thyroid depletion. In this case, there is a high probability of having a baby who will have congenital hypothyroidism. However, if the expectant mother undergoes hormone therapy prescribed by a doctor, then the baby is likely to be born healthy. It is also important to monitor the iodine content in the diet.

A few simple tips, which will not be difficult to follow, can prevent the development of a rather complex disease:

• Lead the right lifestyle.
• Watch your health. If you have the slightest problem, hurry to see a doctor.
• Balance your diet properly. Try to fill it with proteins. And try to refuse carbohydrates and fats, if possible.
• Never self-medicate.

Conclusion

If treatment is started in a timely and correct manner, babies with hypothyroidism develop and grow well. That is why it is important to diagnose the disease in time and start an adequate fight against it. Remember that your child's health is in your hands.

Congenital hypothyroidism is an endocrine disease characterized by decreased thyroid function. Congenital hypothyroidism is quite rare - 1 case per five thousand newborns. The danger of congenital hypothyroidism lies in the fact that the lack of thyroid hormones significantly inhibits the development of the nervous system and the psychomotor functions of a newborn child.

In this article, we would like to discuss the main points related to the problem of congenital hypothyroidism: what is this disease, what are the causes of its occurrence, how is it diagnosed and treated.

What is the thyroid gland and what is its physiological function?

The thyroid gland produces three types of hormones: triiodothyronine, thyroxine and thyrocalcitonin. The first two hormones (triiodothyronine thyroxine) contain iodine. In the human body, their role changes with age: during fetal development and early childhood, these hormones contribute to the development of bones (osteogenesis) and nervous tissue (especially the brain).

In an adult, in view of the end of the development of the nervous system and skeleton, the main role of thyroid hormones is to regulate the energy processes of our body. Under the influence of these hormones, the cells of our body produce heat when we are cold, and also generate energy for other activities.

In addition to triiodothyronine and thyroxine, the thyroid gland produces thyrocalcitonin, a hormone that promotes the accumulation of calcium in the body, which is especially important during the growth of the skeleton and teeth.

What is congenital hypothyroidism?

Insufficiency of the thyroid gland is expressed by a complete or partial deficiency of its hormones: triiodothyronine (T3) and thyroxine (T4). This means that with congenital hypothyroidism, the child's thyroid gland produces less hormones than is necessary for the normal development and functioning of the body.

The term "congenital hypothyroidism" describes the condition in which a malfunction of the thyroid gland is observed already at the birth of a child, that is, a child is born with a pathology, and does not acquire it during an independent life outside the mother's womb.

How common is this disease?

Congenital hypothyroidism occurs with a frequency of 1 in 5,000 thousand. The disease is more common in girls than in boys (about 2.5 times).

What are the causes of congenital hypothyroidism?

At the moment, genetic disorders are considered the presumptive cause of the development of congenital hypothyroidism. In more than 80% of cases, the disease is sporadic, that is, it is not possible to establish any type of hereditary transmission of the disease or a specific association of the disease with a particular population. The remaining cases of congenital hypothyroidism are congenital, that is, the disease is transmitted to children from parents who carry mutant genes.

In addition to congenital primary hypothyroidism, a much rarer form of the disease occurs: congenital secondary hypothyroidism. This disease is characterized by a violation of the structure or function of the pituitary gland - the command center from which the thyroid gland is controlled.

What is the danger of this disease for the child?

The lack of thyroid hormones inhibits the development of the brain, spinal cord, nerves, inner ear and other structures of the nervous system;

At a certain stage, disorders in the development of the nervous system due to a lack of thyroid hormones become irreversible and cannot be treated.

A child with congenital hypothyroidism will lag far behind in development: both psychomotor and somatic.

The general picture of developmental delay against the background of a congenital lack of hormones is called Cretinism. Cretinism is one of the most severe forms of psychomotor retardation in children. As a rule, children suffering from this disease are significantly behind their peers in terms of intellectual and physical development.

What are the signs of congenital hypothyroidism in a newborn baby?

The main signs of hypothyroidism in newborns are:
Delayed labor more than 40 weeks;
The birth of a child with signs of immaturity, despite the post-term pregnancy;
The weight of the newborn is more than 3500 grams;
Edema "pads" on the back of the feet and hands, swelling of the face;
Poor healing of the umbilical wound, prolonged postpartum jaundice;

Rough low crying of the newborn, lethargy, weak breast sucking;
Developmental delay (mental and physical), manifesting already in the first months of life;
Cold hands and feet, dry skin, brittle and dry hair;
Delay in teething and closure of fontanelles;

These and other signs of congenital hypothyroidism can be used for early diagnosis of the disease.

How is congenital hypothyroidism diagnosed?

As a rule, with congenital hypothyroidism, there is a strong decrease in the concentration of thyroid hormones (T3 and T4) and a significant increase in pituitary thyroid stimulating hormone (TSH). Different countries use different diagnostic schemes with the definition of one of these parameters. The diagnostic method itself is called screening.

In Russia, screening for congenital hypothyroidism is carried out by determining the level of pituitary thyroid-stimulating hormone (TSH).

For analysis, all children take a blood test on the 4th-5th day of life (usually from the heel of the child). The resulting samples are sent to special diagnostic centers, where they determine the concentration of TSH. The detection of a pathologically increased concentration of TSH suggests that the child has congenital hypothyroidism.

How is congenital hypothyroidism treated?

When should treatment be started? In view of the fact that thyroid hormones are absolutely necessary for the normal psychosomatic development of a child, and their deficiency leads to irreversible disorders in the structure of the nervous system already at the end of the first month of a child's life, treatment should be started as early as possible from the moment the disease is diagnosed. Usually, treatment is started no later than 2 weeks, however, in some countries, an even earlier start of replacement therapy is recommended (in Germany, for example, it is recommended to start treatment on the 8-9th day of a child's life).

How is the treatment carried out? Treatment of congenital hypothyroidism is carried out using levothyroxine sodium preparations. The structure of this medicine is identical to that of natural thyroxine (T4), one of the thyroid hormones. On sale there are various commercial forms of this drug (Eutiroks, L-thyroxine, etc.), which differ not only in name (and packaging), but also in the amount of active substance contained in one tablet. This fact is important to take into account in the treatment: in some cases, the doctor prescribes a certain dose of the drug, explaining which part of the tablet the child should take. At the same time, when switching to another drug, there is a risk of violating the prescribed dosage of the drug if the new drug is produced in a different dosage, and treatment is continued using the same “tablet parts”.

The entire dose of the medicine is taken at one time in the morning, 30 minutes before meals. For infants, crushed medicine is given before morning feeding.

Bibliography:
1. G.F. Aleksandrova, Clinical endocrinology: A guide for doctors, M.: Medicine, 1991
2. Abramova N.A. Endocrinology, M. : GEOTAR-Media, 2008

congenital hypothyroidism- a condition in which, for various reasons, from birth, the thyroid gland cannot perform its functions.

It is noteworthy that with timely detection and proper treatment, instead of a severely disabled child, a completely healthy person grows up from a child with congenital hypothyroidism.

Thyroid functions

• Regulation of the rate of metabolic processes in the body.
• Regulation of growth and development processes.
• Participation in providing the body with energy.
• Acceleration of the processes of oxidation of nutrients.
• Strengthening of heat exchange processes.
• Activation of the activity of some endocrine glands (for example, sex glands, adrenal glands).
• Stimulation of the activity of the nervous system.

With violations at any of the stages of the synthesis of thyroid hormones, it ceases to perform these functions, and hypothyroidism develops.

Causes of Congenital Hypothyroidism

The causes leading to congenital hypothyroidism are very diverse, but in general they come down either to hereditary pathology, or to spontaneous genetic mutations, or to the effect on the mother of factors that cause a violation of the development of the child in the prenatal period.

These factors include:

• toxic damage (exposure to alcohol, nicotine, pesticides, etc.);
• taking certain medications by the mother;
• infections;
• exposure to radiation,
• living in a region unfavorable for iodine content.

Can maternal hypothyroidism cause congenital hypothyroidism in a child?

First of all, it must be remembered that hypothyroidism is not a specific disease, but a condition that is caused by completely different reasons.

In older children, adolescents, and adults, most commonly girls and women, the main cause of hypothyroidism is autoimmune thyroiditis. It is a disease caused by an autoimmune inflammation of the thyroid gland. It destroys the structure of her cells, and they cannot perform their functions of producing hormones. By itself, autoimmune thyroiditis is not transmitted to a newborn child, but uncompensated increases the likelihood of developing congenital hypothyroidism in an infant.

In iodine-deficient regions, women often have a condition called latent hypothyroidism, caused by a constant lack of iodine in the diet. This affects the condition of the child in the same way - it slightly increases the likelihood of developing hypothyroidism in the child, but does not directly lead to it.

There are single hereditary diseases and mutations that can be passed from parent to child through genes. It occurs extremely rarely, usually in parents with mild hypothyroidism.

In the vast majority of cases (85-90%), the appearance of hypothyroidism in a newborn child is unpredictable and is due to random, newly emerging mutations.

Hypothyroidism in children: symptoms

The appearance of a detailed picture of hypothyroidism indicates that the disease was not diagnosed in time. Provided that this condition is detected early and treatment is started immediately (the optimal time is up to 3 weeks of life), no symptoms will develop, the child will not differ from his peers in any way, will grow and develop normally.

Previously, when the disease was not studied, and there were no opportunities for early diagnosis, the classic picture of congenital hypothyroidism, appearing at about 2-3 years of age, included the following manifestations:

• Severe mental retardation.
• Delayed physical development.
• Violation of the proportions of the skeleton.
• Features of appearance: wide sunken bridge of the nose, large tongue, constantly open mouth.
• An increase in the size and disruption of the heart, changes in the ECG, bradycardia (decreased heart rate).
• Signs of heart failure.
• Difficulties in breathing.
• Rough, low voice.

Congenital hypothyroidism: symptoms in newborns

Only 10-20% of children with congenital hypothyroidism have any of its manifestations at the time of birth:

• (birth after 41 weeks).
• Large birth weight (3500 grams or more).
• Puffiness, puffiness primarily of the face, lips and eyelids.
• Edema of the hands, stop.
• Large tongue, half-open mouth.
• Rough voice, hoarseness when crying.
• Protracted.

Symptoms of congenital hypothyroidism in infants

The rest of the newborns, despite the latent development of the disease, look perfectly healthy until the gradual appearance of the following symptoms:

• Loss of appetite, low weight gain.
• Constipation, flatulence (flatulence).
• Dryness and peeling of the skin.
• Hypotension (decreased muscle tone).
• Difficulty breathing.
• Delay in the timing of teething, closing.
• Approximately from the fifth or sixth month of life, a lag in physical and mental development can be noted.

There are children who have a congenital dysfunction of the thyroid gland, not complete, but partial. Then a certain amount of hormones needed by the body is still produced, and mental retardation and other symptoms will not be expressed.

Diagnosis of hypothyroidism

The main method for diagnosing hypothyroidism is the analysis of the level of thyroid hormones in the blood. It is almost impossible to detect the first symptoms of congenital hypothyroidism in a newborn child, and timely diagnosis of the disease is very important, therefore, not so long ago in Russia, as earlier in other countries, a special screening in the hospital. All newborns take a small amount of blood and determine the content of TSH (thyroid-stimulating hormone). With increased and borderline numbers, the child is carefully examined in order to start treatment in a timely manner if a disease is detected.

In Russia, TSH is determined during screening, and TSH and T4 hormones are used for the final diagnosis.

In 70-90% of cases, in a child, during examination, in addition to changes in the concentration of hormones in the blood, one can detect either the absence of the thyroid gland, or a pronounced decrease in its size, which can be combined with an incorrect location. The size and location of the thyroid gland, or its absence, can be determined using ultrasound.

Treatment of hypothyroidism

As already mentioned, with timely diagnosis and early treatment (up to 3 weeks of life), the disease is completely amenable to correction. If for any reason the diagnosis is not made in time, the brain is damaged irreversibly! At that moment, when visible symptoms of hypothyroidism appear, the work of the brain is no longer subject to restoration, the child will be deeply disabled.

Children who are treated in the first months of life grow and develop normally.

The drug for treatment and its dosage is chosen by the doctor under the constant control of blood tests.

An important feature is the strict rules for taking the drug, with which the doctor must introduce parents.

- a complex of clinical and laboratory manifestations that occur in a child from birth with a deficiency of thyroid hormones or immunity of tropic organs to them. Symptoms include a lag in psychophysical development, myxedema, trophic disorders of the skin and its appendages, depression of the heart, and a decrease in basal metabolism. Diagnosis is based on a characteristic clinic, X-ray diagnostic data, ultrasound of the thyroid gland, ECG, laboratory tests, including measurements of thyroid-stimulating hormone and thyroxine in blood plasma. Treatment involves lifelong replacement therapy with artificial analogues of thyroid hormones.

General information

From 5 to 10% of children with congenital hypothyroidism have disorders in the synthesis, secretion or interaction of the thyroid hormones themselves. Transmission usually occurs in an autosomal recessive manner. The most common variants are defects in the organization of iodine and thyroid hormones (frequency - 1:40,000), Pendred's syndrome (1:50,000). Other forms are extremely rare.

Approximately 5% of all cases of congenital hypothyroidism are central (secondary or tertiary) forms. The most common variant is a combined deficiency of adenohypophysis hormones, including TSH. Isolated deficiency is rare. Causes of damage to the hypothalamic-pituitary system - anomalies in the development of the brain, cysts, malignant and benign tumors, birth trauma of newborns, asphyxia during childbirth, rarely - aplasia of the pituitary gland.

The cause of the development of clinical symptoms of hypothyroidism may be an anomaly in the structure of receptors in target organs caused by gene mutations. The impossibility of interaction of a sufficient amount of hormones with receptors of tropic tissues provokes the development of the so-called "resistance syndrome". As a rule, this is a hereditary pathology transmitted in an autosomal dominant manner. With it, the level of TSH in the blood plasma is normal, T3 and T4 are within the normal range or moderately elevated.

Classification of congenital hypothyroidism

Congenital hypothyroidism has several classifications based on the localization of the disorder, the severity of symptoms and the level of thyroxine, compensation during treatment, and the duration of the disease. According to the origin of the disease, the following forms of hypothyroidism are distinguished:

1. Primary, or thyroid. Pathological changes occur directly in the tissues of the thyroid gland.
2. Secondary. Disorders of the adenohypophysis develop, in which there is a deficiency in the synthesis of thyroid-stimulating hormone (TSH).
3. Tertiary. Insufficiency of the thyroid gland, which occurs when there is a deficiency of one of the hormones of the hypothalamus - thyroliberin. Together with the secondary form, it refers to central hypothyroidism.
4. Peripheral. The insufficiency of the effect of hormones is due to a defect or absence of receptors in tropic tissues or a violation of the conversion of thyroxine (T4) to triiodothyronine (T3).

According to the severity of clinical symptoms and the level of T4 in plasma, hypothyroidism can be latent, manifest and complicated. Latent or subclinical hypothyroidism is characterized by a normal T4 level against the background of an increase in TSH. Clinical manifestations do not occur or they are nonspecific and hardly noticeable. With a manifest form, against the background of a high concentration of TSH, the level of T4 is somewhat reduced. The classic clinical picture of hypothyroidism develops. Complicated hypothyroidism occurs with a high level of TSH, a sharp deficiency of T4. In addition to severe hypothyroidism, there are violations of other organs and systems: heart failure, polyserositis, cretinism, coma, rarely - pituitary adenoma.

Depending on the effectiveness of treatment, congenital hypothyroidism is distinguished:

• compensated- against the background of the treatment, the phenomena of hypothyroidism disappear, the concentration of TSH, T3, T4 in the blood plasma is within the normal range;
• decompensated- even against the background of adequate treatment, there are clinical and laboratory manifestations of hypothyroidism.

By duration, congenital hypothyroidism is divided into:

• transient- the disease develops against the background of exposure to maternal antibodies to the child's TSH. Duration - from 7 days to 1 month.
• permanent- requires lifelong replacement therapy.

Symptoms of Congenital Hypothyroidism

Depending on the form and severity of disorders, the first signs of primary congenital hypothyroidism can manifest at different ages. Sharp hypoplasia or aplasia of the gland manifests itself in the first 7 days of a child's life. Dystopia or mild hypoplasia may cause clinical manifestations between the ages of 2 and 6 years.

Primary signs indicating congenital hypothyroidism: birth weight of a child over 4 kg; immaturity with full-term or post-term (more than 40 weeks) pregnancy; delayed discharge of meconium masses; prolonged neonatal jaundice; dyspeptic phenomena; slow weight gain; lethargy; macroglossia; flatulence and constipation; muscle weakness; hyporeflexia; cyanosis and episodes of apnea during feeding. The skin of the child is cold, swelling of the extremities and genitals occurs. Enlarged fontanelles, non-union of the sutures of the bones of the skull, and hip dysplasia are often observed. Breastfeeding can reduce the severity of clinical manifestations of hypothyroidism.

Primary congenital hypothyroidism develops in stages. A pronounced clinic is observed at the age of 3-6 months. Myxedema occurs. The skin is compacted, icteric-gray, dry. Sweating is drastically reduced. Atrophy of the nail plates and hair develops. The child's voice is low, hoarse and rough. There is a lag in psychomotor and physical development, teeth erupt and are replaced with a delay. With further development, mental retardation is observed. This is manifested by the scarcity of vocabulary and a decrease in intelligence, which is prone to progression up to oligophrenia.

Central congenital hypothyroidism has an indistinct clinical picture. It is often combined with anomalies of the facial skull ("cleft lip", "cleft palate") and insufficiency of other pituitary hormones (somatotropic, luteinizing and follicle-stimulating) with characteristic symptoms.

Diagnosis of congenital hypothyroidism

Diagnosis of congenital hypothyroidism includes the collection of anamnestic data, an objective examination of the child by a pediatrician or neonatologist, instrumental studies, general and specific laboratory tests. In the anamnesis, predisposing factors can be identified - aggravated heredity, mother's illness during pregnancy, malnutrition, the use of obstetric benefits during childbirth, etc. A physical examination of the child reveals a decrease in heart rate, blood pressure, moderate hypothermia, hyporeflexia, developmental delay.

On the radiograph of the extremities, a delay and a violation of the sequence of formation of ossification nuclei, their asymmetry and a specific sign - epiphyseal dysgenesis are determined. On the ECG - sinus bradycardia, a decrease in the amplitude of the teeth, an expansion of the QRS complex. Ultrasound of the thyroid gland reveals dystopia, hypoplasia or the absence of this organ.

In the KLA - normochromic anemia. In a biochemical blood test, an increase in lipoproteins and cholesterol is detected. If a central origin of hypothyroidism is suspected, CT and MRI of the pituitary gland are performed. Specific laboratory tests - measurement of T4 and TSH levels in blood plasma. These tests are used as neonatal screening. Depending on the form of hypothyroidism, the concentrations of these hormones in the blood can be increased or decreased. Rarely, molecular genetic testing is used to identify gene mutations.

Treatment of congenital hypothyroidism

Treatment for congenital hypothyroidism begins immediately upon diagnosis and continues for life. The drug of choice is L-thyroxine. This tool is a synthetic analogue of thyroid hormones and is used as a replacement therapy. The dosage is selected individually. If necessary, the drug can be mixed with breast milk. The effectiveness of the treatment is assessed by the level of TSH and T4 in the blood, the disappearance of symptoms of hypothyroidism. If necessary, multivitamin complexes, symptomatic drugs are additionally prescribed.

The prognosis for congenital hypothyroidism depends on the adequacy and timeliness of treatment. With early diagnosis and timely therapy, normalization of TSH and T4 levels, the prognosis for psychophysical development is favorable. In the absence of treatment during the first 3-6 months of life, the prognosis is doubtful even with the correct further therapeutic tactics. With an adequate selection of the dose of drugs, the rate of psychophysical development reaches the physiological norm, but the lag in intelligence remains. Prevention consists in antenatal protection of the fetus, medical genetic counseling when planning pregnancy, a rational diet and adequate iodine intake during childbearing.