The joy and love you feel when your little one comes into this world is indescribable, isn't it? Every parent hopes to see their child healthy and happy. But sometimes, even the little ones can have unexpected health problems. One such condition, which is seen in newborns, but can be completely controlled if recognized early and treated quickly, is called 'congenital hypothyroidism'. We call this condition medically (Congenital Hypothyroidism) . Even though hearing this name can be scary, if you are properly informed about it, you will realize that it is something that can be managed.
What is this 'congenital hypothyroidism'?
Simply put, (Congenital Hypothyroidism) is a condition in which the thyroid gland is underactive at birth . The thyroid gland is a small, butterfly-shaped gland located at the front of our neck. It produces a type of hormone that is very important for our body, namely thyroid hormone. These hormones are essential for the development of a small child's brain, body growth, and metabolic processes.
So, if a newborn baby's thyroid gland is not developed properly, or if it is not working properly, the body does not produce enough thyroid hormones. That's what we call (Congenital Hypothyroidism).
If this condition is not treated in time, it can have a major impact on the child's development, especially intellectual disability . In fact, (Congenital Hypothyroidism) is the leading cause of preventable intellectual disability. That is why in many countries around the world, including Sri Lanka, a small blood test is done to check the thyroid function of a baby within a few days of birth. This is something that is done routinely.
According to statistics, this condition affects about one in every 3,000 to 4,000 newborns. It is also said that girls are twice as likely to develop it as boys.
Most babies with congenital hypothyroidism will need to take thyroid hormone pills for the rest of their lives. However, some babies have temporary hypothyroidism, which resolves on its own within a few weeks or months. With proper treatment, these children can live very normal, healthy lives.
What are the signs that can tell if a child has this condition?
It may not be immediately apparent that a newborn baby has congenital hypothyroidism. That's why the thyroid screening test mentioned earlier is so important.
However, some subtle signs may be seen within the first few weeks of life. These include:
Signs that may appear in the first few weeks:
- Constipation: The baby has difficulty going to the toilet, and may not go for several days.
- Low muscle tone (Hypotonia): The baby's body feels weak, lifeless, and the limbs feel limp when touched.
- Difficulty drinking milk: Reluctance to drink milk, not being able to suck it properly even when drinking, or vomiting up the milk after drinking.
- Persistent jaundice: Jaundice that occurs shortly after birth usually subsides within a few days. However, in this case, jaundice can persist for weeks.
- Lethargy: The baby seems to be constantly asleep, is difficult to wake, and seems uninterested in playing.
- Hoarseness of voice: When a baby cries, there is a change in the voice, a hoarseness.
- Hypothermia: The baby's body feels cold all the time.
Imagine, if your newborn baby seems to be sleeping all the time, is too lazy to feed, and seems cold to the touch, it's a good idea to be a little careful at times like these.
If left untreated, symptoms that may develop over time include:
If these early signs are not recognized and treated, more symptoms may appear over time.
- Bloating: The stomach appears large and swollen.
- Anemia: Decreased blood volume in the body.
- Bradycardia: The heart rate slows down.
- Hair coarseness: Hair is coarse and dry.
- Cold, dry skin: The skin feels cold to the touch and feels dry.
- Goiter: A swelling in the neck where the thyroid gland is located.
- Hypotension: Low blood pressure .
- Enlarged tongue (Macroglossia): The tongue becomes larger than normal, sometimes protruding from the mouth.
- Swelling around the eyes: The area around the eyes looks puffy.
You don't need to panic if you see one or two of these symptoms, as some of these symptoms can also be caused by other reasons. But if you see something like this, it's definitely best to see a doctor.
Why do our children develop this?
The main cause of congenital hypothyroidism is a defect in the development of the thyroid gland (Thyroid Dysgenesis) . There are several things that can cause this:
The most common reasons:
- Ectopic Thyroid Gland: The thyroid gland may be located in a different location in the neck, perhaps under the tongue, rather than in its normal location.
- Thyroid agenesis: The thyroid gland may be absent from birth.
- Thyroid Hypoplasia: Although the thyroid gland is formed, it is very small in size and has not developed properly.
These three conditions are the most common causes of congenital hypothyroidism.
Reasons for seeing a little less:
There are a few other reasons besides this, but they are a bit less common.
- Genetic Mutations: It can be caused by certain changes in genes that affect the production of thyroid hormones. These may also be hereditary.
- Iodine Deficiency in the Mother During Pregnancy: The mineral iodine is essential for the production of thyroid hormones. If a mother does not have enough iodine in her diet during pregnancy, it can affect the baby's thyroid.
- Certain medications taken by the mother during pregnancy: If the mother uses medications for certain mental illnesses, such as lithium, or medications for hyperthyroidism, such as antithyroid drugs, during pregnancy, they can interfere with the baby's thyroid hormone production.
- Mother receiving treatment for thyroid cancer during pregnancy: If a mother receives treatment for thyroid cancer (such as radioactive iodine) while pregnant, it can also affect the baby.
What complications can occur if left untreated?
As we have discussed before, if not treated early, (Congenital Hypothyroidism) can lead to serious complications . The most important of these are:
- Intellectual Disabilities: Since thyroid hormones are essential for brain development, a deficiency in the hormone can lead to impaired intellectual development.
- Delayed growth: Things like height gain and body growth are delayed.
- Hearing impairment: Some children can even go to the point of not being able to hear.
- Anemia
- Heart conditions such as heart failure
- Vision problems
That's why we say it's so important to recognize this condition early and begin treatment as soon as possible under the advice of a doctor. Doing so can prevent many of these complications.
How do doctors diagnose this condition?
In many countries, including Sri Lanka, every newborn baby is given a thyroid test. This involves taking a few small drops of blood from the baby's heel and checking two hormone levels.
- TSH (Thyroid-Stimulating Hormone): This is a hormone released by the pituitary gland that stimulates the thyroid gland to produce thyroid hormones. If the thyroid is underactive, TSH levels often increase.
- T4 (Thyroxine): This is the main hormone produced by the thyroid gland. This helps the baby's growth and metabolism. In (Congenital Hypothyroidism), this T4 level is low.
If the results of this blood test are abnormal, meaning that the TSH is very high and the T4 is very low, the doctor may do further tests. For example, a thyroid scan or ultrasound may be done to see if the thyroid gland is in the right position, what size it is, and whether there are any changes in its structure. These are the only ways to make a definitive diagnosis.
What are the treatments for this?
The treatment for congenital hypothyroidism is to replace the thyroid hormone that is lacking in the body. The most commonly used medication is levothyroxine . This is actually a synthetic T4 hormone. It comes in the form of a pill. So when giving it to a small baby, you should crush the pill and mix it with some breast milk, formula, or water. Your child's endocrinologist will tell you exactly how to give it. Some soy-based formulas can interfere with the absorption of thyroid hormones, so it's a good idea to talk to your doctor about things like that.
The most important thing is to start this medication within the first month after the baby is born. Only then can we permanently prevent the mental retardation we talked about from occurring.
After starting medication, the doctor will regularly check the thyroid hormone levels in your baby's blood to make sure they are getting the right dose of medication. These blood tests are usually done to:
- Every month or two months until the baby is 6 months old.
- Once every two or three months after the baby is 6 months old.
Most people with congenital hypothyroidism will need to take this medication for the rest of their lives. However, as I mentioned earlier, some people may only need treatment temporarily. Your doctor will explain to you how your child's condition is and how long they will need to take the medication.
How long can a child with this condition live?
This may sound scary, but the life expectancy of a child with congenital hypothyroidism is the same as that of someone without the condition. The most important thing is to start treatment as soon as possible. If you do this, you will have nothing to fear about the future.
When your child grows up, he can do whatever job he wants, start a family if he wants, and do everything normally. Once he stops taking thyroid hormone pills every day, he will be able to live a completely normal life.
Is there a way to prevent this?
Because it is also genetic, congenital hypothyroidism cannot always be prevented. But if you are pregnant, ask your doctor how you can reduce the risk to your baby. He or she can test your iodine levels and see if you need to make any changes to your medications.
What time do you need to see a doctor?
If your baby has congenital hypothyroidism, an endocrinologist will regularly check his thyroid hormone levels. However, if you feel that your baby's symptoms are returning even after starting medication, be sure to let your doctor know. The dosage of the medication may need to be adjusted.
Important questions you should ask your doctor
As a parent, you may have many questions on your mind. It's normal. You can ask the doctor who is treating your child questions like:
- Can you tell me exactly what is causing this condition in my baby?
- Is this a temporary situation or a permanent one?
- Will he have to take medication for the rest of his life?
- How do you determine the exact dosage of medicine?
- How should I give this medicine to my child?
- What if you can't give a dose of medicine?
- How often should thyroid tests be done?
Don't be afraid to ask the doctor any questions you have.
The last thing I have to say is this (Take-Home Message)
As a parent, you have high hopes for your newborn baby when he or she comes into the world. So, it's normal to feel scared and uncertain when you hear that your baby has a certain health condition. "How will it affect my baby if I tell him or her (Congenital Hypothyroidism)?" "What will his or her future be like?" You probably have many questions on your mind.
Don't be afraid. Your doctor is there to answer all these questions and help you. Ask him for all the information and resources you need. The good news is that if you start treatment at the right time and take the right medication, your child can live a happy and healthy life like everyone else. So stay strong and follow your doctor's advice. That's the best thing you can do for your child.
` Congenital hypothyroidism, thyroid gland, childhood diseases, thyroid hormones, child development, Levothyroxine
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