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Congenital Hypothyroidism

Hypothyroidism is an all too familiar disease that many people are forced to live with. The thyroid itself is an important organ. The thyroid is a butterfly shaped tissue located in the neck and right below the larynx and one of the largest glands in the endocrine system. Its function is to ensure that the body’s metabolism, energy usage, protein production, brain development, and sensitivity to other hormones are at healthy levels. This gland secretes two primary iodine-containing hormones known as T3 or triiodothyronine and T4 or thyroxine. While having hypothyroidism is often a lifetime affair, modern medical treatments can make its effects harmless. Hypothyroidism becomes especially dangerous when it is contracted at birth, something known as congenital hypothyroidism. If left untreated, this condition could yield permanent damages to the baby.

Causes of Hypothyroidism

Before going over congenital hypothyroidism, a clear understanding of hypothyroidism itself must be established. There exist several causes of hypothyroidism which include:

  • Surgery to remove the thyroid gland
  • Radiation therapy for cancer
  • Viral infections
  • Some drugs, such as lithium

However, the most common cause of hypothyroidism in the US is the infamous Hashimoto’s Thyroiditis. This is an autoimmune disorder in which the immune system attacks the thyroid, thereby restricting thyroid hormone production.

Symptoms of Hypothyroidism

Many symptoms define hypothyroidism and without proper treatment, they could worsen. These symptoms include:

  • weakness to cold
  • fatigue
  • increased pain in joints and muscles
  • increase in weight
  • slowed heart rate
  • skin dryness
  • depression
  • decreased sweating

What is Congenital Hypothyroidism?

As previously stated, congenital hypothyroidism is a condition in which a newborn child contracts hypothyroidism upon birth. So how common is this disease? In studies that observed populations from all across the globe from Asian to North America, congenital hypothyroidism has been found to affect 1 in 3,000 to 4,000 newborns. Much like normal hypothyroidism, this condition still affects twice as many females as males (source).

Causes of Congenital Hypothyroidism

This form of hypothyroidism occurs when the thyroid is not properly developed or fails to function correctly. For instance, if the thyroid is misplaced, absent, or reduced in size, thyroid hormone production could be easily restricted. Much like normal hypothyroidism, genetics plays a role here. Some 15 to 20 percent of congenital hypothyroidism is inherited.  Most of these cases involve parents having an autosomal recessive gene, meaning the parents may not have the condition themselves but are carriers for it. When this is passed on their children, there is a possibility that they may have an autosomal dominant gene and will have congenital hypothyroidism.

Symptoms of Congenital Hypothyroidism

A wide variety of symptoms exist for this variant of hypothyroidism. At a first glance, infants with congenital hypothyroidism are not easy to detect. Their behaviors are mild at best and hardly negative:

  • heavy sleeping
  • reduced interest in nursing
  • reduced muscle size
  • hoarse crying
  • infrequent bowel movements,
  • exaggerated jaundice
  • low body temperature

In the case of severe congenital hypothyroidism, such as the complete absence of a thyroid gland, more noticeable symptoms would be present:

  • larger anterior fontanel
  • persistence of a posterior fontanel
  • an umbilical hernia
  • large tongue

If left untreated, this condition could worsen and, as stated before, leave permanent damage. This may cause mental retardation and stunted growth.

Treatment and Testing for Congenital Hypothyroidism

The best way to treat such a form of hypothyroidism is to detect it from the beginning. Screening programs for hypothyroidism in newborn infants allows doctors to detect and treat them within the first two weeks of inception. The daily dosage of thyroxine in small tablets are usually enough to treat the symptoms of congenital hypothyroidism. The tablet is to be crushed and given to the infant with water or milk. The most commonly recommended dose range is 10-15 μg/kg daily, typically 37.5 or 44 μg.[4] Within a few weeks, the T4 thyroxine and Thyroid Stimulating Hormone levels are measured to reach normalization of the infant. As the child grows up, these levels are checked regularly to maintain the right dose. The amount of medication increases as the child grows. The treatment process itself is actually inexpensive and highly effective, which explains the wide spread use of hypothyroid treatments such as these.

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