Symptoms and treatment of congenital hypothyroidism. What is dangerous and how hypothyroidism is detected in children Diagnosis of congenital hypothyroidism in newborns

Congenital hypothyroidism is a clinical syndrome that manifests itself in the neonatal period and is associated with a deficiency of thyroid hormones or insensitivity of body tissues to them. According to statistics, it is considered one of the most common among all congenital diseases of the endocrine glands. The average frequency of its occurrence is 1:3500-4000. Moreover, in girls this pathology is detected more often than in boys.

The reasons

In most cases, congenital hypothyroidism is primary and is caused by damage to the thyroid rudiment during fetal development (4-9 weeks) due to exposure, treatment of the expectant mother with radioactive iodine or thyreostatic drugs. However, cases of secondary and even tertiary congenital hypothyroidism associated with pathology of the hypothalamic-pituitary system are possible.

The main causes of congenital forms of hypothyroidism are:

• malformations of the thyroid gland (complete absence of an organ or its underdevelopment, a combination of the latter with a dystopic location, when the glandular tissue is detected in the root of the tongue, trachea);
• hereditary dis- or agenesis of the gland;
• genetic defects in synthesis (impaired capture and metabolism of iodine), secretion and metabolism of thyroid hormones;
• insensitivity of tissue receptors to thyroid hormones;
• hereditary resistance to thyroid-stimulating hormone;
• in a woman's body during pregnancy;
• malformations of the nervous system in the fetus;
• damage to the pituitary gland as a result of trauma during childbirth;
• aplasia of the pituitary gland;
• congenital deficiency of thyroid-stimulating hormone or thyreoliberin, etc.

In some cases, hypothyroidism in a newborn can be transient if the pregnant woman has thyroid diseases of an autoimmune nature and the transfer of thyroid-blocking antibodies through the placenta. Sometimes transient dysfunction of the gland is observed in premature or low birth weight newborns as a result of intrauterine growth retardation.

Fundamentals of pathogenesis

All pathological changes in the body that occur during hypothyroidism are due to a lack of thyroid hormones. Since the latter perform many important functions and participate in all types of metabolism, this significantly affects the development of the child. First of all, the functioning of the nervous system is disrupted:

• the total number of neurons decreases;
• the amount of biologically active substances (neurotransmitters, peptides) in the nervous tissue decreases, which leads to a pronounced depression of the central nervous system;
• the differentiation of brain tissue cells suffers;
• the process of myelination of nerve fibers slows down.

It should be noted that after reaching 4-6 weeks of age, these changes become almost irreversible.

With hypothyroidism, there is a decrease in protein synthesis and a violation of energy processes, resulting in:

• the growth and differentiation of the bones of the skeleton slows down;
• muscle performance decreases;
• hematopoiesis is inhibited;
• immunity is weakened;
• enzymatic activity decreases (in the gastrointestinal tract, liver, kidneys).

In addition, in the body of patients, lipolysis slows down and the exchange of mucopolysaccharides is disturbed. A special substance, mucin, accumulates in the tissues, as a result of which they become edematous. That is why such children, despite poor appetite, never look emaciated.

Clinical manifestations

The clinical picture of congenital hypothyroidism is characterized by a variety of symptoms. However, their severity varies from a latent course to manifest forms with pronounced symptoms. It is not so easy to identify this pathology immediately after birth, because its manifestations increase by 3-6 months. But this question is fundamental, since the prognosis depends on the timeliness of the diagnosis and the start of treatment. It is possible to suspect the presence of hypothyroidism in a newborn by a combination of signs:

• large body weight at birth;
• late passage of meconium;
• protracted (up to 10 days);
• dry skin;
• low physical activity;
• muscle hypotension;
• sluggish sucking and poor appetite;
• respiratory disorders (noisy breathing, difficulty breathing through the nose, periods);
• gastrointestinal problems (bloating and its increase in size,);
• decrease in body temperature;
• early (poorly treatable).

Each of these symptoms individually is not pathognomonic, but their combination should alert the doctor and parents.

As the child develops, the clinical picture of hypothyroidism becomes more pronounced. The child lags behind peers both in physical and neuropsychic development. Him:

• lethargy, adynamia increases;
• growth slows down;
• body proportions are violated (relative shortening of the limbs and fingers, thick neck, narrow palpebral fissures, wide bridge of the nose);
• teeth erupt late
• edema appears (on the trunk, face, feet);
• eyelids, lips, nostrils, tongue thicken (does not fit in the mouth);
• voice becomes low;
• the fontanel does not close for a long time;
• there is a pathology of the cardiovascular system (the boundaries of cardiac dullness expand, heart sounds become muffled, blood pressure decreases, systolic murmur can be heard);
• often comes to light.

In this case, the thyroid gland may not be determined (with underdevelopment) or increase in size (with pathology of hormone synthesis).

The manifestation of mild variants of congenital hypothyroidism can occur by 2-5 years of age and even during puberty. Usually, this can reveal growth retardation, sexual development, decreased intelligence and symptoms.

Diagnostics

Early diagnosis of hypothyroidism is very important. In order not to miss this pathology in a newborn, it is customary to use screening methods. To do this, on the 3rd-4th day of life, capillary blood is taken from the child to study the level of thyroid hormones and thyroid-stimulating hormone (TSH) of the pituitary gland. Upon receipt of positive (or doubtful) results of the analysis, it is repeated, but at the same time, venous blood is taken for the study.

In areas where screening is not available, newborns with at least two of the symptoms listed above should be screened.

In general, diagnosis is based on a detailed analysis of clinical data and the results of additional research methods. The list of required examinations includes:

• and TSH;
• (reveals anemia, lipid metabolism disorders);
• ultrasound examination of the gland;
• radiography of the wrist joints (detects a lag behind the age norm of the rate of ossification processes).

It should be noted that changes on the radiograph and obvious metabolic disorders appear after 3-4 months of age.

Differential diagnosis in congenital hypothyroidism is carried out with the following pathological conditions:

• birth injury;
• jaundice and anemia of various origins;
• chondrodysplasia;
• and etc.

Treatment

The mainstay of treatment for congenital hypothyroidism is lifelong replacement therapy. It starts from the moment the diagnosis is established, regardless of the possibility of laboratory confirmation. For this, L-thyroxine is used in a starting dose of 10-15 mcg per day. Gradually increase the dose of the drug, assessing the dynamics of clinical symptoms and hormone levels in the blood plasma.

The purpose of such treatment is to normalize the content of thyroid hormones in the blood and prevent damage to the central nervous system. The effectiveness of such treatment is evidenced by the active behavior of the child and the physiological dynamics of growth.

Additionally, such children may be assigned:

• vitamins;
• neurotrophic drugs (Cerebrolysin, Piracetam);
• massage;
• physical therapy classes.

Forecast and possible consequences

With early diagnosis and timely treatment (in the first month of life), the prognosis for the life and health of the child is favorable. Adequate replacement therapy can achieve good results. The child retains normal intelligence, and he does not lag behind his peers in physical development.

Congenital hypothyroidism refers to diseases that are chronic in nature. For those who do not know, experts associate this type of disease with a violation of the functionality of the thyroid gland, which overtakes newborn babies.

Regarding the reasons due to which this type of disease begins to develop in babies even in the womb, we can say that there are several of them. As a rule, the diagnosis of this type of disease is carried out among newborn babies still in the maternity hospital around the fourth birthday.

Hypothyroidism in newborns is treated with drugs that replace thyroid hormones. According to medical data, a correct diagnosis and adequate treatment help to avoid irreversible consequences, and the baby develops normally, otherwise everything ends very sadly for both the parents and the child himself.

The frequency of diagnosed cases is approximately two out of five thousand babies. An interesting fact is that congenital hypothyroidism is most often detected in young women than in boys.

Congenital hypothyroidism in babies can occur for many reasons, consider them in more detail:

• genetic predisposition. Most often, the development of this type of disease is associated with a violation of the proper formation of the gland long before the birth of the child, as a rule, this happens even during the period when the baby is still in the mother's abdomen, various mutations at the gene level can serve as a culprit;
• A disorder that is associated with the normal production of thyroid hormones;
• The defeat of the hypothalamus, or as it is also called secondary hypothyroidism. As a rule, such a lesion is accompanied by various severe disorders in the endocrine system;
• A significant decrease in sensitivity to thyroid hormones. Such a deviation most often occurs due to the fact that the mother, while still pregnant, used antithyroid drugs. The use of such medicines can be prescribed by a doctor and only if the pregnant girl suffers from goiter.

In addition to the above reasons, there are several other factors that can have a negative impact on the unborn baby. First, do not forget about toxic damage. This term refers to the use of alcoholic beverages and smoking, which the expectant mother did not refuse even during pregnancy. Secondly, radiation exposure also affects the development of the disease.

Well, do not forget that living in regions where the situation in terms of iodine content in food and water is considered unfavorable also adversely affects the health of not only the mother, but also the baby.

Unfortunately, it is almost impossible to avoid the last point, therefore, while carrying a child, the expectant mother should devote as much time as possible to her state of health and not forget to visit an endocrinologist.

Main symptoms

Most often, congenital hypothyroidism goes away without any visible symptoms and does not manifest itself in any way, especially in the first weeks of a baby's life. The first signs indicating the development of the disease become noticeable after about a few months, usually at this time both the doctor and the parent begin to notice in their child that he is significantly behind his peers in development. According to statistics, only in a small number of babies the first symptoms become visible in the first weeks of life.

So, the typical symptoms of the disease:

• A post-term pregnancy that lasts more than forty weeks;
• At birth, the baby weighs more than 3500 grams;
• swelling of the face;
• A large tongue is why the baby has a constantly half-open mouth;
• A rough and hoarse voice when weeping;
• Protracted jaundice.

These symptoms indicate congenital hypothyroidism in newly born babies, which is detected almost immediately after birth. It should be noted that the first signs indicating the development of the disease in children in the fourth month of life differ from those found in newborns.

Firstly, these children have a reduced appetite. Secondly, parents notice that their baby is suffering from constipation. Thirdly, the skin of the child begins to peel off strongly. Fourthly, body temperature decreases and, as a rule, stops at a level below normal.

And finally, newly regrown hair becomes brittle and thin. Despite all the modern technologies, detecting congenital hypothyroidism in children after a few days of life is quite difficult. Today, almost every child receives exactly the treatment that will help him in full development, as a result of which he will grow and enjoy life just as well as all his peers.

Necessary treatment

As mentioned earlier, with the timely detection of the disease and the appointment of the correct treatment, congenital hypothyroidism can be corrected quite well. Keep in mind that if, for any reason, the disease was diagnosed after the first three weeks of life, then the child has irreversible brain damage.

At the moment when the child already has visible symptoms indicating a disease, it is no longer possible to restore the normal functioning of the brain, as a result of which the baby becomes disabled. But children in whom congenital hypothyroidism was detected at an early stage continue to grow and develop as their peers should.

Of course, there can be no question of any independent treatment, in this case, therapy should be carried out only under the supervision of the attending physician. Only the doctor chooses the dosage necessary for the baby and strictly monitors his condition with the help of a blood test. As a rule, before prescribing any drug to a child, the doctor tells the parents in detail about it, who in the future must strictly adhere to all the recommendations received.

There is no need to panic, with the right course of treatment, congenital hypothyroidism will not bother your child in any way, and he will continue to develop further as a completely normal and healthy boy or girl. The most important task facing the parents of such a child is to provide him with the most correct treatment, because his further development will depend on this.

Now you know the main causes of the development of this disease. When pregnant, try to take care of yourself doubly if possible. Many expectant mothers can avoid most of the reasons why their baby may have health problems after birth. Do not abuse bad habits, it is better to devote more time to walks in the fresh air and proper nutrition.

Congenital hypothyroidism is a disease caused by a deficiency of hormones produced by the thyroid gland. The lack of these substances is fraught with a delay in the development of the child, both mental and physical. If treatment is started on time, the prognosis is quite favorable. The lack of professional therapy leads to the progression of the disease, when the child is given even a disability.

The reasons

The thyroid gland is responsible for the production of thyroxine (T4) and triiodothyronine (T3). These hormones contribute to the harmonious development of the child's body. Hypothyroidism develops as a result of a deficiency of one or another substance, leading to developmental delay, both physical and mental.

The disease occurs for many reasons. Congenital hypothyroidism in children is closely related to genetics. Often, genetic mutations negatively affect the formation of the thyroid gland even at the time when the unborn baby is in the mother's womb.

Damage to the hypothalamus also leads to the development of the disease. He is responsible for the work of the endocrine glands in the human body, including the functioning of the thyroid gland. Due to damage to the hypothalamus, various diseases of the endocrine system develop.

Another reason for the development of the disease may be a decrease in the body's sensitivity to thyroid hormones. Most often this happens due to the intake of antithyroid drugs by a pregnant woman. The doctor can prescribe them to the expectant mother if she is diagnosed with a goiter.

If the cells of the thyroid gland lose their sensitivity to iodine, then the thyroid hormones in the body are not produced as expected. The formation of these hormones can be disrupted due to improper iodine metabolism or due to the fact that the necessary substances are not delivered to the thyroid gland in the right amount. All this is the cause of hypothyroidism.

Symptoms

Not all newly born babies show symptoms of hypothyroidism. Only after some time, mom and dad notice some violations in a newborn child. Their suspicions are confirmed by the pediatrician.

But it happens that already in the first month of a baby’s life, obvious symptoms of hypothyroidism are observed:

• newborn weight from 4 kg;
• non-closing mouth;
• swelling all over the face and in the dimples located above the collarbones;
• low voice;
• baby jaundice, difficult to cure with conventional therapeutic methods;
• blueness in the area of ​​the nose and lips.

In babies who have reached 3 months, the signs of congenital hypothyroidism are somewhat different:

• peeling is clearly visible on the skin;
• the baby suffers from constant constipation;
• the child does not eat well (decreased appetite);
• hair painfully brittle;
• hypothermia (low temperature).

In the future, hypothyroidism manifests itself with other symptoms. In a sick child much later than their peers, teeth begin to cut, signs of hypotension appear, weakness in the muscles is observed, the work of the heart muscle is disturbed, the child complains that it is difficult for him to swallow, he is tormented by constant chills.

If sick babies are not treated, they become lethargic and indifferent. They are not interested in games, they do not contact with others. Patients with hypothyroidism often suffer from viral infections and anemia. The latter is difficult to treat with drugs.

Symptoms of hypothyroidism in adolescents are manifested by hearing problems. Sick guys suffer from obesity and short stature. They have no desire to learn. Often their psyche is disturbed.

Pathogenesis

Thyroid hormones are essential for normal fetal development. If for some reason they are not produced by the thyroid gland, then they enter the body of the unborn baby through the placenta from the mother's body. But as soon as the child is born, the level of maternal hormones drops sharply, and the gland does not produce its own. This is dangerous, since hormones are essential for the physical development of a child at such an early age.

The formation of the myelin sheath of nerve fibers responsible for the development of the cerebral cortex depends on the hormones produced by the thyroid gland. If there is a lack of T3 and T4, then the underdevelopment of the cortex occurs. This process is irreversible, leading to mental retardation of the child, and the degree of the disease may be different. Even complete cretinism is possible.

The best time to start replacement therapy is the first week of a baby's life, so every baby in the hospital is tested for hypothyroidism.

For the proper development of the nervous system, it is important to start all therapeutic measures on time. After diagnosis, the baby is assigned an individual course of therapy.

Not only the central nervous system suffers from hypothyroidism. Deficiency of hormones produced by the thyroid gland adversely affects the growth of the skeleton and other organs.

Diagnostics

It is impossible to diagnose hypothyroidism only by the symptoms that appear in children, so every maternity hospital has a rule according to which early screening is mandatory, on the 4th day from the date of birth of the baby. This requires blood sampling from the heel of a small patient.

In the laboratory, the level of thyrotropin, triiodothyronine and thyroxine is determined. If the indicator exceeds 100 mU / l, then primary hypothyroidism is diagnosed. If the result of the analysis shows 20-50 mU / l, then the study is repeated, but only a dry blood spot is already analyzed. If the indicator again exceeds 20 mU / l, then the level of TSH in the blood serum is determined. The disease code according to ICD 10 is E03.

To diagnose hypothyroidism, the Apgar scale has also been developed. It is a test based on the summation of scores for each question about the presence of a particular feature. This table looks like this:

If the total score exceeds 5, then hypothyroidism can be suspected.

Treatment of congenital hypothyroidism

Immediately after the diagnosis of hypothyroidism in infants, treatment begins, which is based on taking hormones, since the thyroid gland will never produce them. This means that medications will have to be taken throughout life.

Only the attending physician selects a regimen for taking medications. Self-treatment is unacceptable. Often, the doctor prescribes levothyroxine to patients with congenital hypothyroidism. The chemical composition of this drug is similar to the hormones that the thyroid gland should produce in children, which is why endocrinologists choose this drug for replacement therapy in small patients.

Hypothyroidism negatively affects the mental activity of the child, therefore, the doctor includes drugs that improve the metabolic processes of the brain in the complex of therapeutic measures.

Since the thyroid gland is responsible for many processes in the body, for example, for the exchange of calcium and other substances, the doctor may prescribe drugs that help improve these processes. Antianemic and laxatives are also prescribed. But the latter may not be needed if hormone therapy is chosen correctly.

Psychologists and defectologists constantly monitor a sick child. They use various methods that can correct the violations of the cognitive activity of the baby. Here, such a method as game therapy is indispensable.

If a child needs treatment in a clinic, then a nurse comes to the aid of the doctor. A whole complex for the care of patients with hypothyroidism, called the nursing process, has been developed. It includes several stages, from collecting an anamnesis to following all the doctor's instructions.

Complications of hypothyroidism

The most common consequence of hypothyroidism is mental retardation, sometimes reaching an extreme degree -. The consequences of the disease are also manifested in physical disabilities, for example, often a child grows much more slowly than his peers, and when he reaches the age of puberty, he lags behind in these indicators. The child also suffers from frequent infectious diseases that last for a long time, turning into a chronic stage. There is also a problem with the stool: it is either unnecessarily difficult or impossible without taking special preparations.

If a pregnant woman suffers from hyperthyroidism, then this can affect the health of the baby. Often these patients have various diseases of the internal organs and even heart defects. It is not uncommon for babies to be born with various problems associated with the thyroid gland.

There is another complication - hypothyroid coma. Fortunately, it is rare and only occurs in older people who do not receive regular treatment and suffer from comorbidities.

Hypothyroidism often leads to infertility in both women and men. The disease weakens the immune system, which leads to frequent infectious processes in the body, cancer.

Prevention

A pregnant woman should make sure that the baby avoids hypothyroidism. To do this, you should lead the right lifestyle while expecting a baby. Bad habits should be completely excluded: they have a detrimental effect on the formation of the thyroid gland of an unborn child.

Hypothyroidism in pregnant women and children

HYPOTHYROISIS - Causes, Symptoms and FOLK TREATMENTS

There are various genetic variants of the causes of the disease.

So, if a pregnant woman suffers from hypothyroidism, then the child is most often born with this disease. But the expectant mother must undergo hormone therapy as prescribed by the doctor, which will help the baby to be born healthy.

In the modern world, medicine pays close attention to childbearing. Doctors strive to identify all abnormalities and defects in a child at the earliest stages of pregnancy, immediately after birth. Among the many congenital diseases observed in children, hypothyroidism is considered very dangerous and serious. It is characterized by impaired functioning of the thyroid gland, a decrease in the amount of its hormones in the blood. Hypothyroidism in newborns can occur due to many reasons. His diagnosis is carried out even while he is with his mother in the hospital, on the third or fourth day after birth.

The main symptoms of the disease: slow development, both in the physical and mental direction, teething much later than usual in children, increased dryness of the skin. Treatment of congenital hypothyroidism in infants is carried out with the help of drugs that replace thyroid hormones. Timely intervention, identifying a health problem and taking the necessary measures gives children a chance to grow and develop on a par with their peers, to be no worse, no more stupid, no less than others. If you do not attach importance to the disease, in the future defects in the skeleton of the child may be revealed, problems with the nervous system may appear.

The concept of congenital hypothyroidism

Congenital hypothyroidism is a disease associated with impaired functioning of the thyroid gland in newborns. It is two to two and a half times more common in girls than in boys. Statistics show that this disease is detected in 1-2 children out of 5000 born.

Why is the thyroid gland so necessary for the correct, timely development of the baby? It is an organ of the endocrine system that performs the following functions in the human body:

• regulation of metabolism: fats, carbohydrates, proteins, as well as calcium;
• body temperature control;
• contributes to the formation of intelligence in a child.

From birth, the thyroid gland has been directly involved, the main role in the growth, development of the baby's body, and especially the bones and the formation of the nervous system. One of the tasks performed by the thyroid gland is the production of two types of hormones: thyroxine, triiodothyronine. The lack of these substances can significantly affect both the physical and mental development of the individual, slow down mental processes, and the growth of the child.

The reasons

Congenital hypothyroidism in children occurs for a variety of reasons, the main of which are:

• Heredity. Mainly due to genetic mutations, even when the child is in utero, the formation and functioning of the thyroid gland is disrupted.
• Improper formation, production of thyroid hormones, for example, due to deterioration, slowing down of iodine metabolism.
• Damage to the center of the nervous system responsible for the functioning of the thyroid gland, which can cause serious disturbances in the endocrine system.
• Decreased sensitivity to thyroid hormones.

Symptoms

Congenital hypothyroidism is mainly manifested in infants not immediately, but several months later. Only in a countable number of children the disease can be detected in the first days, weeks of life. The most striking symptoms that speak of the disease are: swelling of the face, large weight (more than three and a half kilograms), cyanosis in the area of ​​the nose, lips (cyanosis), swelling in the area of ​​the supraclavicular fossae, a half-open mouth, roughness of the voice, jaundice that has dragged on for several weeks.

Later, at the age of three or four months, congenital hypothyroidism is expressed as a deterioration in appetite, brittle hair, constipation, a decrease in body temperature, dryness, and peeling of the skin. Then, with the maturation of the child, physical, mental inhibition in development is added to them.

Thanks to modern medicine, a comprehensive examination of infants, the detection of congenital hypothyroidism allows you to immediately take up its treatment, at first help the baby develop on a par with other children, his peers. Ignoring the disease subsequently negatively affects children, leads to cretinism, when they have a deformity of the face, curvature of the legs, arms, much lower growth, susceptibility to chronic diseases, they stop developing intellectually.

Diagnostics

In newborns, the diagnosis of congenital hypothyroidism is carried out using a specially designed Apgar scale, which indicates the most common symptoms, reflects their significance in points:

• constipation - 2 points;
• umbilical hernia - 2 points;
• puffiness of the face - 2 points;
• pallor - 1 point;
• heavy weight (more than 3.5 kg) - 1 point;
• muscle weakness - 1 point;
• prolonged jaundice (more than 3 weeks) - 1 point;
• large tongue - 1 point;
• open posterior fontanel - 1 point;
• duration of pregnancy more than 40 weeks - 1 point.

Congenital hypothyroidism can be suspected if more than five points are scored during the examination.

In order to accurately determine whether the baby is sick or not, on the third or fourth day of his stay in the hospital, blood is taken from his heel. The result of the analysis becomes known a few weeks after the blood sampling. The presence or absence of congenital hypothyroidism is determined by the level of thyroid-stimulating hormone. If the concentration of TSH is more than 50 mU / l, this is already a cause for concern. Parents are informed about the disease if the suspicion is confirmed.

Treatment

If congenital hypothyroidism in a baby is confirmed, then treatment should be started without delay. The slightest delay, ignoring can have the most deplorable consequences, have a negative impact on his mental and physical development. Procedures carried out in a timely manner will have a beneficial effect on the child, he will not differ in anything from other children, he will also be active, smart, and intelligent.

As a rule, the main form of treatment for newborns from this disease is replacement therapy with levothyroxine sodium drugs. It has a positive effect on the growth of the body and the formation of the necessary substances, when used in small doses, medium doses of the drug can improve metabolism, increase the need for tissues in oxygen, contribute to the rapid, timely development of the baby and the growth of his body. Improvements after using this drug become noticeable after a week and a half.

The main feature of levothyroxine, its advantage over other drugs is the similarity in its chemical composition with thyroxine. Infants are most often recommended to give the medicine in the morning feeding, older children are advised by experts to use levothyroxine in the morning, an hour before meals, with a small amount of liquid.

Positive dynamics in a child can be determined by the following indicators, criteria:

• Normalization of the required level of thyroid-stimulating hormone in the blood.
• The concentration of thyroxine corresponds to the norms. Up to a year in a child, the level of the substance is determined every two to three months, subsequently - every three to four months.
• Good indicators of growth of bones, skeleton.
• Positive dynamics of intellectual development corresponding to the norms.
• Positive dynamics of physical development corresponding to the norms.

Normalization of thyroxin in the blood of children occurs within ten to fourteen days after the start of treatment, and thyroid-stimulating hormone - after two to three weeks. The dosage for each newborn is prescribed strictly individually, based on his condition, tests, clinical data, laboratory tests. Levothyroxine tablets are found in different dosages, 25.50 and 100 micrograms.

Dosing of Levothyroxine

In the first few weeks after birth, a baby is usually prescribed an initial dose of 12.5 to 50 mcg / day per square meter of body surface, and a maintenance dose of 100 to 150 mcg / day.

Up to six months, newborns are given from 8 to 10 mcg / day. per kilogram of weight, from six months to a year - from 6 to 8 mcg / day. per 1 kg of weight, from one to five years - 5-6 mcg / day. per 1 kg of weight, children from 6 to 12 years old are prescribed, as a rule, 4-5 mcg / day. per 1 kg of weight.

Only an appropriate specialist, an endocrinologist, can prescribe treatment for newborns with congenital hypothyroidism. Along with the endocrinologist, pediatricians and neuropathologists should also monitor the course of treatment, changes in the condition of children.

With the timely detection of problems, the identification of congenital hypothyroidism, the implementation of the recommendations of doctors, the correct treatment, the baby in terms of development, growth, and intellectual abilities will not differ in any way from their peers.

- 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. 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, maternal diseases 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.