What Is Congenital Hypothyroidism?

Dr Karishma Shaikh
Dr Karishma ShaikhMarch 23, 2023

Congenital means from birth. So, congenital hypothyroidism describes the lack of thyroid hormones since birth.

Congenital hypothyroidism or CHT results from the absence of thyroid glands in a newborn. In some cases, the baby may have thyroid glands but may not be able to produce thyroid hormones. Congenital hypothyroidism

What Are The Types Of CHT?

The development of thyroid glands in babies begins early in pregnancy. It first develops right behind the tongue and then moves to its correct position in the lower neck. Now, there can be several types of congenital hypothyroidism in babies.

  1. Dysgenesis – the thyroid gland doesn’t develop completely by birth. So the gland cannot produce thyroid hormones.
  2. Ectopic – The thyroid gland begins to develop behind the tongue but it doesn't move to its correct position.
  3. Dyshormonogenesis – Sometimes, the thyroid gland develops and moves to the correct position completely. However, it cannot produce the hormones due to a faulty production mechanism resulting in no thyroid hormones. It typically happens if the baby has inherited a faulty (mutated) gene from the father or the mother or both.

What Is The Cause Of Congenital Hypothyroidism?

Congenital hypothyroidism does not have a particular cause. There are no known ways to prevent it.

So, if your baby has CHT, it is in no way your fault! Join Thyroid Community/

Why Are Thyroid Hormones Important For The Baby?

The thyroid hormones dictate every aspect of a baby’s physical and mental growth. It is responsible for proper brain function and cognitive development.

Thyroid hormones guide the development of the baby’s central nervous system including brain function.

Without enough thyroid hormones, a child will not only experience stunted growth but also suffer from low intellect (low IQ) and poor cognitive functioning.

What Are The Symptoms Of Congenital Hypothyroidism?

Almost all babies born with congenital hypothyroidism (CHT) behave normally and show no congenital hypothyroidism symptoms during birth.

It is IMPERATIVE to get your newborn tested for hypothyroidism immediately after birth.

Some babies do show mild congenital hypothyroidism symptoms, such as –

  • Excessive sleepiness
  • Prolonged jaundice
  • Difficulty latching and feeding
  • Low muscle tone
  • Cold hands and feet
  • Constipation
  • Poor growth

How Is Congenital Hypothyroidism Diagnosed?

Thyroid hormones control proper brain development. Every baby needs to get a heel-prick test at around 5 days of age to screen for multiple conditions including CHT.

The doctor will recommend a heel prick test to check if the baby has enough TSH (thyroid stimulating hormone) in their system. TSH serves as a signal for the thyroid glands to produce enough thyroid hormones.

If the TSH comes back too high, it means the child is at risk for congenital hypothyroidism.

In such an instance, the doctor will recommend further tests to confirm their diagnosis.

How Is Congenital Hypothyroidism Treated?

If your baby has tested positive for CHT, first you need to consult a pediatric endocrinologist. Levothyroxine (synthetic T4 hormone) is the medicine of choice for most pediatricians and pediatric endocrinologists.

Since your baby is quite young, the doctor will carefully adjust the dose almost every month if not every two weeks.

You will need to ensure that your baby gets a complete thyroid profile frequently so the doc can adjust their doses accordingly.

Always give your baby the exact dose that the doctor mentions. Do not adjust the dose by yourself without talking to the pediatric endocrinologist. Your baby’s brain development depends upon T4. Therefore, it is of utmost importance that they receive the correct daily doses.

What Are The Side Effects Of Congenital Hypothyroidism Treatment?

Treatment of congenital hypothyroidism with levothyroxine (synthetic T4) is next to none provided you are giving the correct dosage.

Dangers arise only in the cases of over-treatment or under-treatment of hypothyroidism. That can be easily avoided if you get their TSH, T3, and T4 levels checked on time.

Is Congenital Hypothyroidism Common?

It is not very common. Around 1 in 2000 to 4000 newborns are diagnosed with congenital hypothyroidism or CHT.

If my firstborn has congenital hypothyroidism, will my secondborn also have it?

Unless your firstborn has dyshormonogenesis (caused by a faulty gene), there is no surety that your secondborn will also have congenital hypothyroidism. Genetic counseling can help you reach a proper conclusion on the risks of CHT being passed on to your second child.

Can Children With CHT Lead A Normal Life As Adults?

Yes. Your child will have to take levothyroxine (T4) for life if they do not have a functioning or present thyroid gland.

They will also require thyroid tests at least once every 6-months once they reach their teenage.

With the correct dose of meds, proper diet, and enough exercise, your child should not face any hypothyroidism symptoms. However, if they begin to experience sudden weight gain, hair loss, dry skin, cold intolerance, or constipation, you should immediately contact their endocrinologist or a functional medicine expert.

CHT is a manageable condition. People with congenital hypothyroidism can live happy, productive, and fulfilling lives with the proper guidance. However, it is absolutely mandatory to begin treatment within a couple of weeks after birth to allow them to grow up as healthy adults.

Take-Home Points

  • Congenital hypothyroidism is not always inherited or genetic.
  • CHT screening is a must for every baby within 5-days of birth.
  • Congenital hypothyroidism symptoms may or may not be present since birth.
  • Congenital hypothyroidism treatment includes levothyroxine (T4 hormone) for babies.
  • CHT treatment should begin soon after birth.
  • There are no known causes of congenital hypothyroidism.
  • If your child has CHT, it’s not your fault.
  • CHT is not a curable condition, but those with CHT can live long, happy, and productive lives as adults if they receive timely treatment.

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