Learn about primary congenital hypothyroidism

Primary congenital hypothyroidism is congenital hypothyroidism. Congenital hypothyroidism is common in children with some clinical features that may appear early, or may appear until adulthood before the child is diagnosed with hypothyroidism.

Primary congenital hypothyroidism is a hormonal disorder that results in insufficient thyroid hormone production for the body's needs. This is a common disease in children, especially newborns, due to thyroid hormone disorders during pregnancy or after birth.
The clinical symptoms of congenital hypothyroidism do not appear immediately after birth, so it is often difficult to diagnose, affecting the child's development. Currently, the newborn screening program has helped detect congenital hypothyroidism in babies right after birth, so that it can be treated early and help children develop normally.

The main and major cause of congenital hypothyroidism is an abnormality in thyroid development including:
Hypothyroidism Ectopic thyroid gland Absence of thyroid In addition, rare causes of congenital hypothyroidism include: :
Inherited thyroid hormone synthesis disorder Thyroid reduced ability to retain iodine Lack of enzymes involved in thyroid hormone synthesis Severe regional iodine deficiency, also known as local cretinism, local congenital hypothyroidism Phuong pregnant mother radiotherapy

Symptoms of congenital hypothyroidism can appear soon after birth or later, even when the child is an adult. In infants, the symptoms may be:
The child has prolonged physiological jaundice. At that time, if the hepatobiliary test does not find the cause, it should immediately think of congenital hypothyroidism. Children cry hoarsely, cry weakly. Yellow, dry, purple veins. Thin, dry and brittle hair Big head, swollen and rough face, eyes far apart, heavy eyelids, narrow slits, flat nose, thick and big tongue that makes children open their mouths, short limbs, big and rough hands and feet . Older children are often short and unbalanced. Children with congenital hypothyroidism have signs of umbilical hernia, large and flattened abdomen, children often eat less and often have prolonged constipation. Children with developmental delays in motor skills such as rolling, crawling, sitting, walking, teething, and fontanelle; mentally, children sleep a lot, have slow speech, and have intellectual disabilities that make it difficult to go to school.

To diagnose primary congenital hypothyroidism, the doctor prescribes the following tests:
Specific tests show that TSH is increased, T4 is decreased. Nonspecific testing by age of bone shows slow growth. Locate the thyroid gland by imaging the thyroid gland with 99m Tc. Diagnosis of primary congenital hypothyroidism needs to be differentiated from secondary hypothyroidism, which is Hashimoto's thyroiditis or Down syndrome, Klinefelter, Turner syndrome, etc. In older children, the diagnosis needs to be differentiated after the child has had surgery to treat goiter or radiation therapy when treating malignant tumors in the neck such as Hodgkin's, ...

Most hypothyroidism has the goal of treatment is to bring the patient to euthyroid status in the shortest time possible with the principle of treatment is using thyroid hormone replacement medicine for life. Specific treatment of primary congenital hypothyroidism is as follows:

Medicines: Thyroxin tablets are available in 50g and 100g strength. Usage: Take 1 capsule/time/day 1 hour before breakfast.
Thyroxin dose in the treatment of congenital hypothyroidism depends on the age of the child as follows:
From 0 to 6 months old: 25 - 50 micrograms/day, 8-10 micrograms/kg/day. From 6 to 12 months old: 50-75 micrograms/day, 6-8 micrograms/kg/day. From 1 to 5 years old: 75-100 micrograms/day, 5-6 micrograms/kg/day. From 6 to 12 years old: 100 - 150 micrograms/day, 4-5 micrograms/kg/day. From 12 years old and up: 100 - 200 micrograms/day, 2-3 micrograms/kg/day. After the treatment of primary congenital hypothyroidism, it is necessary to monitor the treatment results as follows:
Overdose: When the drug is overdosed, the child will be excited, the heart rate will increase rapidly, nausea, diarrhea, and a lot of vomiting. sweat, difficulty sleeping. At that time, the test showed that the T4 concentration increased by more than 200 nmol/l and the TSH decreased below 0.01 UI/ml. If given to children with high doses for a long time, children will be short and their bones will grow rapidly. Insufficient dose: When treating primary congenital hypothyroidism but not enough dose, children will slow down in growth and mental retardation. Tests show that normal T4 levels, such as TSH, are elevated. Appropriate dose: With a suitable therapeutic dose, children will gradually reduce symptoms of hypothyroidism and keep up with other children of the same age in height and spirit. The test showed that TSH levels were normal and that T4 was in the upper limit of normal. Bone age scan shows the same as real age. In the first year of treatment for congenital hypothyroidism in children, it is necessary to monitor and take the child for re-examination every 3 months, in the following years, take the child for re-examination every 6 months. At the follow-up visit, the child will have a clinical examination of the thyroid gland and other characteristics, measure the DQ/IQ index, test TSH, T4, and bone age every 6 months.

Children with congenital hypothyroidism, if diagnosed and treated early, will have the ability to develop like other normal children, from which their quality of life will also be ensured. On the contrary, late detection can affect a child's intellectual development, reducing opportunities for learning and socialization.
Therefore, newborn screening program is implemented to help detect congenital hypothyroidism in children early. After birth, the baby's heel blood is taken and tested. The test results show whether the child has congenital impairment or not, from which early treatment is to ensure the physical and mental development of the child.
Primary congenital hypothyroidism is a common disease in children. Currently, the disease is detected early through the newborn screening program, so that the health and life of the child is ensured because the child is treated and monitored in time if the disease occurs.
Vinmec International General Hospital is the address for examination, treatment and prevention of many diseases. The examination and screening process at Vinmec is often coordinated with many specialties to early detect medical conditions for timely treatment. Accordingly, the prenatal and neonatal screening program at Vinmec is a simple and cheap method that can bring great results, especially in early detection of congenital diseases that can be encountered in children such as hypothyroidism. natural.
After having an accurate diagnosis and screening of the disease and stage, the family will be consulted to choose the most appropriate and effective treatment methods. The treatment process for congenital hypothyroidism is always closely coordinated with many specialties: Endocrinology, Diagnostic Imaging, Biochemistry, Immunology, Cardiology, Stem Cells and Gene Technology; Department of Neonatology, ... to bring the highest efficiency as well as comfort. After undergoing the treatment phase, the patient will also be monitored and re-examined to determine whether the treatment is effective or not.