Congenital hypothyroidism in children. Causes. Treatment. Consequences

What is congenital hypothyroidism in children

Congenital hypothyroidism (ICD code 10 - E03) is a congenital disease of the thyroid gland, which is characterized by the inability to produce thyroid hormones or their insufficient quantity. Congenital hypothyroidism is scary because it prevents the child’s body from growing and developing normally; various forms of mental and physical development delay occur.

According to statistics, this disease occurs in one baby out of 4-5 thousand. Most often, the pathology occurs in girls: 2-2.5 times more often than in newborn boys.

Hypothyroidism in children: how not to confuse laziness with thyroid disease

You can often hear from parents of schoolchildren that the child “doesn’t want to do anything” and does not study well. However, behind the signs of “banal laziness”, poor health may be hidden - for example, due to disturbances in the functioning of the thyroid gland. We talked about hypothyroidism in children with Larisa Sannikova, chief pediatric endocrinologist of the Novosibirsk region.

– Larisa Vladimirovna, what is hypothyroidism?

– Hypothyroidism is a disease that is expressed in a decrease in the function of the thyroid gland, namely in a decrease in the production of the hormone thyroxine. Hypothyroidism has a separate ICD10 code and is coded as a disease. Most often in practice we are faced with the diagnosis of “primary hypothyroidism,” when the function of the thyroid gland for some reason decreases and it begins to produce less of the hormone thyroxine. There are also secondary and tertiary hypothyroidism.

– Can hypothyroidism affect a child’s academic success? What are the symptoms of this disease?

– Symptoms may vary. They are often disguised as chronic fatigue syndrome. These include severe weakness, drowsiness, decreased academic performance, and memory impairment. Sometimes - a tendency to constipation, weight gain, swelling, dry skin, brittle nails, hair loss. The child may complain that he is not getting enough sleep. Girls during puberty may experience menstrual irregularities.

And it happens that other than weakness and drowsiness, there are no symptoms.

– How common is hypothyroidism in children?

– When visiting a pediatric endocrinologist, hypothyroidism accounts for 30 to 40% of all diseases for which this specialist is consulted.

Therefore, we can say that hypothyroidism is one of the main problems that one has to face. The prevalence is also quite high because we do not detect many situations because patients do not come forward.

– What are the causes of hypothyroidism?

- There are many reasons. The first is low iodine intake. We are considered a region with a mild degree of severity in terms of iodine deficiency, and some regions of the region - for example, Kyshtovsky - are considered to be of moderate severity.

In addition, children during puberty experience an increased need for thyroid hormones, because these hormones, along with sex hormones and growth hormones, are involved in the process of puberty. And against the background of iodine deficiency, a transient decrease in thyroid function with all clinical symptoms may occur.

The second quite common factor is the situation of autoimmune damage to the thyroid gland. Against the background of changes in immunity due to stress, chronic and acute severe infections, the child begins to produce antibodies to his own thyroid gland, which are damaging in nature, and this can also lead to a decrease in thyroid function. As a result, hypothyroidism develops, associated with autoimmune thyroiditis.

Currently, there is a tendency for autoimmune diseases to manifest themselves earlier. Children aged three to four years may already have heterogeneity in the structure of the thyroid gland - this is one of the signs of autoimmune thyroiditis.

– How is hypothyroidism diagnosed? Based on what research?

– The diagnosis of hypothyroidism is made by hormonal blood tests. We determine serum levels of two hormones - TSH and free T4. If T4 is low and TSH is higher than normal, then this is hypothyroidism, which requires treatment.

If autoimmune thyroiditis is suspected, the titer of antibodies to thyroid peroxidase is additionally examined. Heterogeneity of the structure of the thyroid gland according to ultrasound, the appearance of nodules in its structure, decreased function and a high titer of antibodies are the main signs by which the diagnosis of “autoimmune thyroiditis” can be made.

Very often we identify subclinical variants of hypothyroidism, when there are slight excesses of thyroid-stimulating hormone while the thyroxine level is still preserved. However, over time, hypothyroidism can become more severe.

– Can hypothyroidism be temporary? Is it possible to cure it forever?

– If a decrease in thyroid function is associated with a short-term deficiency of the microelement iodine, then this condition can be short-term and when iodine intake is normalized, thyroid function is restored.

But if we are talking about some serious problems in the thyroid gland - it could be the same autoimmune thyroiditis, then, as a rule, hypothyroidism persists for a long time, and sometimes this diagnosis is established for life.

– How is hypothyroidism treated?

– The treatment is substitution and quite simple, according to the principle: what is not enough in the body, we give it in the preparation. Of course, the treatment regimen is determined by the doctor. But if the diagnosis is established for the first time, the levels of thyroid-stimulating hormone are very delicately increased - on average, up to 10, with normal free T4, we, as a rule, begin treatment by taking daily doses of iodine. We try to exclude iodine deficiency, and if this does not help, then we go on replacement therapy.

– If a child is diagnosed with autoimmune thyroiditis, but does not have hypothyroidism, is any treatment required?

– It happens that when the diagnosis is made, the titer of antibodies to thyroid peroxidase is low, and the function of the thyroid gland is not impaired. In this case, we simply leave the patient under observation. If there is no increase, no nodes, then we have nothing to treat.

If this is a pronounced immune process that has led to a decrease in thyroid function, that is, to the development of hypothyroidism, then standard treatment is prescribed - hypothyroidism replacement therapy. It turns out that we are not treating autoimmune thyroiditis, but its consequence – hypothyroidism.

– Can children with autoimmune thyroiditis be vaccinated?

– Autoimmune thyroiditis is not a contraindication for vaccinations. However, if we find a child in the first phase - hypertoxic, then we give a medical exemption from vaccinations for 2 - 3 months. But, as a rule, in practice we are faced with the consequences of autoimmune thyroiditis.

– In what cases does congenital hypothyroidism occur? What tactics are used with such children?

– Congenital hypothyroidism is hypothyroidism that occurs due to the fact that during pregnancy there is a problem with the thyroid gland (hypoplasia, aplasia, impaired hormone synthesis), that is, the thyroid gland is not able to produce enough hormones. Without treatment, this leads to the development of cretinism, that is, a pronounced delay in physical and mental development.

In order to identify this symptom, in Russia, as well as throughout the world, neonatal screening for hypothyroidism is carried out. Even in the maternity hospital, a drop of blood is taken from the heel of all children onto a filter piece of paper, which is used to perform a TSH test. If high scores are detected, the child is retested. If the diagnosis is confirmed, the baby is prescribed treatment no later than the second or third week of life. In this case, he will be no different from healthy people. Children on replacement therapy grow and develop on par with their peers, and no one will suspect that they have health problems.

– What if such treatment is not carried out?

– If there is no replacement therapy, then there will be a very pronounced lag in intellectual and physical development, prolonged jaundice in newborns, myxedematous swelling of the face and limbs, dry skin, constipation, muscle hypotonia, umbilical hernia.. This is a disabling disease, which, fortunately, can be fully compensated. We have not had children with congenital and uncompensated hypothyroidism for a long time.

– What are the risk factors for developing hypothyroidism?

– Risk factors include iodine deficiency, stressful situations, infections, and hereditary factors. Therefore, if there are relatives in the family with autoimmune thyroiditis, then the risk of its development in the child increases. This is an additional reason to control the situation.

Also, the risk of hypothyroidism increases during puberty, when the need for all hormones is quite high.

– What should parents do if they notice symptoms of hypothyroidism in a child?

– First of all, of course, show it to the pediatrician. Hormonal testing is done in any clinic, and pediatricians can prescribe it. If the indicators are not normal, then this is a reason to contact an endocrinologist.

Also, if there are any suspicions, an ultrasound of the thyroid gland is performed so as not to miss possible cysts, nodules, heterogeneity of the structure, which may be a manifestation of an autoimmune lesion of the thyroid gland.

– Do children need to be given iodine supplements and in what quantity?

– Yes, parents can buy them and give them as a preventive measure while the child is growing. For children under 10 years of age, before puberty, the dose of iodine corresponds to 100 micrograms per day. For adolescents, the recommended dose is 150 - 200 micrograms per day. Such drugs are sold in pharmacies.

You can also get the required micrograms by using iodized salt in your diet. Nowadays, a stable compound is used for this, which is not destroyed by heat treatment, exposure to light, and so on.

The use of iodized salt in the diet can cover the daily requirement for iodine. Foods rich in iodine include seafood, persimmons, and walnuts.

– Is it possible to use dietary supplements with iodine, folk remedies such as “blue iodine”?

– As for dietary supplements, it is important to know that they contain exactly the daily dose. Dosage is very important for us.

Iodine in its pure form is a dose that is a thousand times higher than the daily dose, the use of which can lead to manifestations of hyperthyroidism, as well as block the function of the thyroid gland.

Therefore, we are talking about micrograms - it is strictly forbidden to use an alcohol solution of iodine, “blue iodine” and other similar products internally.

Causes of congenital hypothyroidism

The causes of hypothyroidism in newborns can be varied. The disease itself develops due to abnormal development of the thyroid gland. Such an anomaly may be abnormal intrauterine development of the fetal organs: the thyroid gland may develop in the space behind the sternum or in the sublingual space, in addition, the tissues of the organ itself may be underdeveloped or completely absent.

The disease can also be caused by unfavorable factors affecting a woman during pregnancy:

poor nutrition (lack of vitamins and minerals, important nutrients for the thyroid gland iodine and selenium);
infectious diseases;
autoimmune diseases;
intoxication of the body;
abuse of various medications;
being in a radioactive irradiation zone.

According to statistics, hypothyroidism is a genetically determined pathology in only 2% of newborns.

Consequences of the disease

The consequences of insufficient thyroid hormone production can be catastrophic for a child without the necessary treatment.

Consequences of congenital hypothyroidism:

delay in physical, emotional and intellectual development;
since thyroid hormones affect the functioning of many organs, we can talk about emerging pathologies also from the heart, nervous system and psyche;
in advanced cases, myxedema occurs (insufficiency of thyroid hormones in tissues and other organs), which leads to the patient’s coma.

Dear patients, in our medical center you can do an ultrasound of the thyroid gland.

Description of the disease

The thyroid gland begins to work already by the 12th week of intrauterine development, releasing three basic hormones into the body: thyroxine (T4), triiodothyronine (T3). They regulate the formation of organs and tissues, including the cerebral cortex, which is responsible for higher nervous activity.

The work of the gland and its participation in the regulation of various processes in the body continues throughout life, but in childhood it is especially important. Lack of hormones leads to delayed physical and mental development, delayed puberty, deterioration of metabolism and thermoregulation.

Symptoms

There are a number of symptoms that may indicate pathology in a child even before birth or in the first hours of life:

prematurity or post-term pregnancy;
genetic predisposition;
enlarged fontanel;
birth of a large fetus (more than 4 kg).

Other symptoms begin to appear gradually:

jaundice;
with late passage of meconium in a newborn (first feces);
frequent constipation and severe gas formation;
hyporeflexia;
incomplete fusion of cranial bones;
Muscle weakness and apathy may occur.

By 3-6 months of life, a newborn with hypothyroidism may experience:

dry skin;
skin color may be jaundiced-gray;
changes occur in the voice, it may be low with hoarseness;
delays in mental and physical development.

In some cases, congenital hypothyroidism may not appear until the age of six.

Symptoms of hypothyroidism

Symptoms of hypothyroidism include:

weakness, apathy, fatigue;
constant drowsiness during the day and insomnia at night;
unreasonable weight gain;
dry and sagging skin, hair loss;
frequent constipation;
loss of appetite;
menstrual irregularities;
both men and women experience a decrease in libido;
convulsions.

These manifestations are typical, but hypothyroidism can occur in a subclinical form and not have such a clear picture.

If such symptoms appear, you should consult an endocrinologist.

Diagnostics

In the first weeks of life, it is very difficult to diagnose congenital hypothyroidism and this is possible only in 10-15% of cases, so doctors need to focus mainly on the existing symptoms, which were voiced in the article above. If symptoms exist in the first months and years of life, a number of studies are carried out that will be aimed at identifying the disease:

routine examinations by a pediatrician, and before the child reaches the age of one month – by a neonatologist;
taking a general and biochemical blood test to determine the concentration of thyroid hormones, cholesterol and other important indicators;
monitoring the child’s pulse and blood pressure, since with hypothyroidism in children these indicators will be reduced;
conducting an ECG, which may show bradycardia and other abnormalities;
ultrasound examination of the thyroid gland, which can reveal both some deviations from the norm and the complete absence of the thyroid gland;
in some cases, a CT or MRI of the baby’s head may be prescribed.

Diagnosis of hypothyroidism

A pediatric endocrinologist diagnoses hypothyroidism in children. The examination is aimed at timely detection of hormone deficiency, determining the form and cause of the disease. All newborn babies are required to have their thyroid-stimulating hormone (TSH) levels checked on days 4-5 of life. If it is in excess, a preliminary diagnosis of hypothyroidism is made.

An extensive laboratory examination includes determination of the level of hormones T3, T4, thyreglobulin, hormone binding index, detection of antibodies to thyroid hormones, and a test with thyrotropin-releasing hormone to assess the functioning of the pituitary gland.

In addition to tests, other diagnostic procedures are used: ultrasound and scintigraphy of the thyroid gland, determination of bone age (by x-ray of the knee joints, feet, hands), MRI or CT of the sella turcica, heart examinations (ECG, ultrasound) in the presence of related problems. If necessary, the child is referred for consultations to specialized specialists: ophthalmologist, neurosurgeon, neurologist, cardiologist, hematologist, etc.

Treatment of congenital hypothyroidism

For treatment to be effective, it must begin immediately after diagnosis.

Usually, the child is immediately prescribed synthetic thyroid hormones - L thyroxine. The amount of this substance is selected individually, depending on the child’s weight and other parameters.

The effectiveness of drug therapy is assessed by the content of thyroid hormones in the child’s blood (TSH and T4), as well as the disappearance or presence of symptoms.

Sometimes, if necessary or to achieve greater effectiveness of treatment, additional vitamin complexes or drugs are prescribed to reduce the symptoms of hypothyroidism.

Forecast

If the pathology is detected early, the consequences of congenital hypothyroidism will not be detrimental to the patient’s health, but are assessed by doctors as favorable.

With proper therapy, bringing the main thyroid hormones to normal levels, we can say that nothing will hinder the child’s development (taking into account the fact that hormone replacement therapy will be lifelong).

If congenital hypothyroidism is detected not in the first months of life, but at 3-6, then the chances of complete normalization of the condition are significantly reduced, even with proper treatment. At the same time, it is possible to achieve the required level of psychophysical development of the child, but there is a high probability of lagging behind in intellectual development.

Which doctor will help?

The treatment of congenital hypothyroidism in children is carried out by an endocrinologist together with a pediatrician.

I, Georgy Nikitich Romanov, am a qualified and experienced endocrinologist. My medical practice spans more than 20 years, during which time I have encountered various cases, including a disease such as congenital hypothyroidism, with which we successfully worked.

I acquired my skills not only at universities in our country, but also abroad (I completed internships in the UK, Germany, and Russia). The skills and experience I have gained help me accurately prescribe treatments for my patients.

At the moment, I am conducting face-to-face appointments at the Amadeus Clinic medical center in Gomel and conducting paid online consultations. As part of an online consultation, I can evaluate diagnostic results, treatment progress, adjust treatment, and more.

To sign up for a consultation, write to me in one of the suggested messengers: Viber, Skype, Instagram, VKontakte, WhatsApp.