The thyroid gland is an organ of the endocrine system responsible for the production of iodine-containing hormones. It is shaped like a butterfly and is found on the front of the neck. Thyroid hormones have a wide range of effects on the human body. These include:
- metabolism,
- physical and psycho-emotional development,
- work of the cardiovascular system,
- maintaining natural body temperature.
Congenital hypothyroidism is a disease in which a child is born with a deficiency of the hormone thyroxine (T4), produced by the thyroid gland. This hormone plays an important role in the regulation of growth, brain development, and metabolism (the rate of chemical reactions in the body). Congenital hypothyroidism in children is one of the most common endocrine disorders. Worldwide, about one in two each yearthousands of newborns are diagnosed with this disease.
Most babies born with hypothyroidism appear normal at birth, usually due to the mother's thyroid hormones received in the womb. If the disease is diagnosed at an early stage, it is easily treated with daily oral medication. Therapy allows a child with congenital hypothyroidism to lead a he althy lifestyle, have normal growth and develop like all normal children.
Varieties
Some forms of congenital hypothyroidism in children are temporary. The baby's condition improves within a few days after birth. Other forms of the disease are permanent. They can be successfully controlled by continuous hormone replacement therapy. The damage from not treating hypothyroidism is irreversible, even if therapy is started a little later.
Reasons
In 75 percent of cases, the causes of congenital hypothyroidism are defects in the development of the thyroid gland of the newborn. Here are some possible features:
- absence of an organ,
- wrong position,
- small size or underdevelopment.
In some cases, the thyroid gland may be normally developed but unable to produce enough thyroxine due to a lack of certain enzymes.
The concepts of congenital hypothyroidism and genetics are closely related. If the parents or close relatives had a history of problems with the thyroid gland, then there is a risk of their occurrence in the newborn. About 20 percent of casesthe occurrence of congenital hypothyroidism is due to genetics.
An important factor is the lack of iodine in the mother's diet during pregnancy. Various medications used during pregnancy can also affect the development of the baby's thyroid gland.
Hypothyroidism can also be caused by damage to the pituitary gland. It is responsible for the production of thyroid-stimulating hormone, which controls the functioning of the thyroid gland.
Signs and symptoms
Typically, children with congenital hypothyroidism are born at term or a little later and look completely normal. The vast majority of them do not have any manifestations of thyroxin deficiency. This is partly due to the mother's supply of thyroid hormones through the placenta. Within a few weeks after birth, the clinical signs and symptoms of hypothyroidism become more apparent. The brain of newborns is at risk of irreversible damage. Because of this danger, it is important to start treatment as soon as possible.
For the above reasons, each child who is born undergoes various examinations. One of them is neonatal screening. It can be used to detect hypothyroidism in many newborns before symptoms appear. Screening is done 4-5 days after birth. Previously, such a survey is not carried out due to the risk of obtaining a false positive result.
In other cases, when an insufficient amount of iodine was supplied to the body of a woman during pregnancy,the baby may have early signs of hypothyroidism after birth, such as:
- puffy face;
- swelling around the eyes;
- enlarged swollen tongue;
- bloated belly;
- constipation;
- jaundice (yellowing of the skin, eyes and mucous membranes) and elevated bilirubin;
- hoarse cry;
- poor appetite;
- reduced sucking reflex;
- umbilical hernia (protrusion of the navel outward);
- slow bone growth;
- big spring;
- pale dry skin;
- low activity;
- increased sleepiness.
Diagnosis
All newborns undergo neonatal screening for the first few days. Testing is done by taking a few drops of blood from the child's heel. One of the tests is to check the functioning of the thyroid gland. The main indicator for the diagnosis of congenital hypothyroidism is a low level of thyroxine and an increased level of thyroid-stimulating hormone (TSH) in the blood serum of a newborn. TSH is produced in the pituitary gland and is the main stimulant of hormone production in the thyroid gland.
Diagnosis and treatment should not be based solely on the results of neonatal screening. All newborns with thyroid pathology should have an additional blood test. This analysis is taken directly from a vein. As soon as the diagnosis is confirmed, treatment with hormonal drugs is immediately started.
Also for additionalDiagnosis of congenital hypothyroidism can be performed by ultrasound and scintigraphy (radionuclide scanning) of the thyroid gland. These procedures allow you to assess the size, location of the organ, as well as identify structural changes.
Treatment methods
The main treatment for congenital hypothyroidism is to replace the missing thyroid hormone with medication. The dose of thyroxine is adjusted as the child grows and according to the results of blood tests.
The clinical recommendation for congenital hypothyroidism is that treatment should be started as early as possible and continued throughout life. Late initiation of therapy can lead to mental retardation. This is due to damage to the brain and nervous system.
Some features of the treatment
Replacement therapy is done with a drug called "Levothyroxine" ("L-thyroxine"). It is a synthetic form of the hormone thyroxine. However, its chemical structure is identical to that produced by the thyroid gland.
There are some features of the treatment of congenital hypothyroidism:
- Hormone replacement medicines the child should receive daily.
- Pills are crushed and dissolved in a small amount of formula, breast milk or any other liquid.
- Children with hypothyroidism should be registered with an endocrinologist and a neurologist. And also undergo periodic examinations to monitor and adjust treatment.
Dose and frequency of medicationshould only be determined by a physician. If administered incorrectly, side effects may occur. With an excess amount of the prescribed hormone, the child may have the following symptoms:
- restlessness,
- liquid stool,
- loss of appetite,
- weight loss,
- rapid growth,
- rapid heart rate,
- vomit,
- insomnia.
If the dosage of "Levothyroxine" is insufficient, the following signs appear:
- sluggishness,
- drowsiness,
- weakness,
- constipation,
- puffiness,
- rapid weight gain,
- growth slowdown.
Soy formulas and iron-containing medicines can reduce the concentration of the hormone in the blood. In these cases, the specialist must adjust the dose of the drug.
Consequences
If treatment is started within the first two weeks after the baby is born, serious he alth problems can be prevented such as:
- delayed developmental milestones,
- mental retardation,
- poor growth,
- hearing loss.
Delayed treatment or lack thereof, sooner or later leads to the following symptoms:
- rough, swollen facial features;
- breathing problems;
- low husky voice;
- delayed psychomotor and physical development;
- reduced appetite;
- poor weight and height gain;
- goiter (enlargement of the thyroid gland);
- anemia;
- slow heart rate;
- accumulation of fluid under the skin;
- hearing loss;
- flatulence and constipation;
- late closure of fontanelles.
Children left untreated tend to become mentally retarded, have disproportionate height and weight, hypertonicity and unsteady gait. Most have speech delays.
Comorbidities
Children with congenital hypothyroidism have an increased risk of developing congenital anomalies. The most common heart defects, pulmonary stenosis, atrial or ventricular septal defects.
Hormone control
An important part of the treatment is monitoring the level of thyroid hormones in the blood. The attending physician should monitor these indicators to ensure timely adjustment of the medications taken. Blood tests are usually done every three months until the age of one, and then every two to four months until the age of three. After the age of three, laboratory tests are carried out every six months to a year until the completion of the child's growth.
Also, during regular visits to the doctor, an assessment of the baby's physical indicators, psycho-emotional development and general he alth will be carried out.
Risk group
A child is at risk for congenital hypothyroidism if they have any of the following conditions:
- Chromosomal abnormalities such as Down syndrome,Williams or Turner syndrome.
- Autoimmune disorders such as type 1 diabetes or celiac disease (gluten intolerance).
- Thyroid injury.
Forecast
Today, children born with congenital hypothyroidism do not have serious developmental and growth delays. But for this it is necessary to start treatment as early as possible - within a few days after birth. Babies who are not diagnosed or who are treated much later have lower IQs and physical he alth problems.
In the past, thyroxine deficiency was not diagnosed at birth and was not treated with hormone replacement therapy. As a result, the consequences of congenital hypothyroidism were irreversible. The children had a serious delay in psycho-emotional and physical development.
Newborns with hypothyroidism with timely treatment with properly selected medications with constant medical supervision will grow and develop normally, like all he althy children. For some infants, thyroid hormone deficiency is a temporary condition, requiring treatment for a couple of months to several years.
In order to prevent the occurrence of hypothyroidism in a newborn, a pregnant woman should take iodine-containing drugs.
Thyroid hormone deficiency can also occur in young children, even if test results were normal at birth. If your child develops signs and symptoms of hypothyroidism, see a doctor immediately.
Bconclusion
Thyroid hormones play an important role in the regulation of height and weight, the development of the brain and nervous system. Hormone deficiency leads to hypothyroidism. In early childhood, the disease is the leading cause of mental retardation worldwide. The success of treatment lies in the timely diagnosis and immediate use of hormone replacement therapy. Synthetic thyroxine is the safest drug for treating a lack of thyroid hormones. Lack of medical treatment leads to the development of mental retardation.
