What is Congenital Hypothyroidism and How Common is It?

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For most people, thyroid dysfunction develops after they are well out of childhood. However, a notable percentage of the population is born with it or develops it shortly after birth. This form of thyroid dysfunction is known as congenital hypothyroidism.

Gaining a greater understanding of congenital hypothyroidism (CH), its causes, and how to identify and treat it can possibly lead to improved childhood wellness and subsequently lifelong health.

Congenital Hypothyroidism: Knowing More

Regardless of the form it takes, hypothyroidism slows bodily processes, causes fatigue, and poor cognitive function – read a full symptom list here.

Primary congenital hypothyroidism, also known as CH, CHT, and congenital myxedema, occurs in newborns and infants. Congenital hypothyroidism may develop soon after birth and the condition appears more frequently in females.

It’s estimated that approximately one in every 4,000 babies in the United States is born with congenital hypothyroidism! This means that congenital hypothyroidism is the most common form of hypothyroidism among infants. It accounts for nearly 90 percent of hypothyroidism in children.

The primary difference between hypothyroidism and congenital hypothyroidism is that those with CH are born with a condition rather than developing it later in life. Upwards of 85% of all congenital hypothyroidism cases is caused by an underdeveloped, misplaced, or completely absent thyroid gland – learn more about life without a thyroid here. The resulting deficiency of thyroid hormones causes the child to experience a wide variety of symptoms that inhibit development and other bodily functions.

Sinister Symptoms of Congenital Hypothyroidism

The inhibited thyroid hormone production caused by CH results in a variety of symptoms. The primary indicators of congenital hypothyroidism include:

  • Sluggishness or lethargy
  • Delayed reflexes
  • Poor cognition
  • Slowed growth
  • Learning delays
  • Jaundice or yellowing of the skin or eyes
  • Increased sleep duration
  • Constipation
  • Hypotonia or poor muscle tone
  • Swollen tongue
  • Pale cool skin
  • A hoarse cry
  • Delayed weight gain
  • Large soft spot or fontanel
  • Bloating

It’s the responsibility of parents and caregivers to be aware of and recognize the indicators of congenital hypothyroidism. Symptoms frequently go unnoticed and it is important to actively monitor your child for such signs.

Newborns may go weeks to months before symptoms present themselves. Generally, symptoms are seen three to four weeks after birth but can occur before or after that range.

Causes of Congenital Hypothyroidism

Most cases of congenital hypothyroidism are sporadic, meaning that the condition is not passed from parent to child. Because congenital hypothyroidism is usually an autosomal recessive genetic condition, genetic transference of CH requires that both parents impart non-working genes. If the child inherits two faulty genes from their parents, they are likely to develop CH. Roughly 15 percent of children with congenital hypothyroidism acquired it from their parents.

For those considering pregnancy or have concerns that their child may have CH, it may be beneficial to enlist the assistance of a genetics specialist to investigate the presence of non-functioning genes.

Maternal thyroid dysfunction during pregnancy may result in the child suffering thyroid issues as well. Iodine is a critical component of thyroid function. Therefore, iodine deficiency during pregnancy increases the risk of a child being born with CH. Additionally, taking anti-thyroid drugs during pregnancy contributes to the occurrence of CH. Both iodine deficiency and poor thyroid function in the mother increases the risk of congenital hypothyroidism.

Testing and Identification

A standard array of tests for congenital hypothyroidism are frequently administered to newborns. Depending on state and local laws, some tests may be included or avoided.

The following tests are generally standard practice for assessing congenital hypothyroidism:

  • Heel stick (blood drawn from the heel of the foot, also known as the PKU test)
  • Hearing screen (assesses the baby’s ability to hear different sounds)
  • Pulse oximetry (measures oxygen in the blood stream)

Even if a child doesn’t return standard or healthy results from the screening, it does not immediately indicate that a child has CH. Multiple factors can influence test results and it is often beneficial to retest if the results are not satisfactory.

Even though standard testing can identify CH it is important to inquire further about other testing methods.

Similar to traditional thyroid testing, CH can be identified through assessing thyroid hormone in the bloodstream. TSH, Free T4, T4, and T3 are all critical factors in thyroid function. High TSH (thyroid stimulating hormone) generally indicates hypothyroidism and low thyroid hormone levels (Free T4, T4, and T3) are also indicative of CH. However, it’s important not to rely solely on TSH testing because it can miss many signs of thyroid dysfunction.

Additional tests including an x-ray of the child’s legs may also be administered. Children with congenital hypothyroidism will likely have knee bones that appear underdeveloped. Furthermore, scanning of the thyroid may also confirm if the child has a thyroid condition. A malformed or absent gland is an indicator of CH.

The World of CH Treatment

Generally, CH is treated in a similar fashion to traditional hypothyroidism. Meaning that the child will need to take a daily dose of thyroid hormone, generally in pill form. This is to resolve the deficiency caused by underactive thyroid production.

If treated appropriately, it is possible to avoid the development-hindering impact of CH. If treatment is delayed a child with CH is at risk of suffering from intellectual disabilities, learning disabilities, developmental delays, and delayed growth.

Hypothyroid treatment usually requires a prescribed and optimized dose of thyroid hormone. Treatment is available in various forms including:

For optimal treatment, it is more than likely that a patient will require a compounded formulation that is specified to their unique needs. Combination medications often aid patients better than individual hormone treatment, particularly synthetic T4.

Those born without a thyroid (or had theirs surgically removed) may acquire an optimized dose of thyroid medication faster and with fewer fluctuations than those with a partially functioning thyroid. This is because hormone levels are not influenced by abnormal fluctuations if the thyroid is not present.

Those with a partially functioning thyroid may experience shifts in thyroid levels, requiring ongoing testing and medication optimization. Furthermore, it is likely that those without a thyroid will require T3 treatment in addition to T4. Because some T4 is converted into T3 through the thyroid those who do not have one may need medication that is already in the appropriate form.

Providing A Brighter Future Through Thyroid Awareness

Thyroid dysfunction can have a lasting effect on your life. Particularly impactful is its influence on early childhood development. If congenital hypothyroidism goes undiagnosed and untreated, it can inhibit learning, cognition, growth, and the child’s future. Treatment is frequently effective as long as CH is recognized early.

Congenital hypothyroidism may be uncommon but being aware of the condition and the symptoms it presents can help you provide a better life for your child as well as others.

For more information on the thyroid gland, download our free Thyroid 101 e-book!

Click Here to Download Thyroid 101


1. http://www.babysfirsttest.org/newborn-screening/conditions/primary-congenital-hypothyroidism

2. http://www.thyroid-info.com/articles/hypokids.htm

3. http://thyroidnation.com/born-congenital-hypothyroidism/

4. https://hypothyroidmom.com/hypothyroidism-and-autism-the-story-of-micah-boy-genius/

About Holtorf Medical Group

The Holtorf Medical Group specializes in optimizing quality of life and being medical detectives to uncover the underlying cause of symptoms, rather than just prescribing medications to cover-up the symptoms. We are experts in natural, prescription bioidentical hormone replacement and optimization, complex endocrine dysfunction, fibromyalgia, chronic fatigue syndrome and Lyme disease.

We’ve dedicated our practice to providing you the best in evidenced-based, integrative medicine that’s not only safe and effective, but provides measurable results.