To date, doctors have diagnosed approximately 1 in every 2,000 newborns with congenital hypothyroidism. This often involves an inactive or absent thyroid gland. Because of this, affected individuals experience a deficiency in thyroid hormones. Consequentially, a deficiency in thyroid hormones can result in problems in both mental and physical development. However, there is hope for those diagnosed early on with congenital hypothyroidism. Early diagnosis and treatment can prevent the occurrence of negative symptoms and reduce the risk of damage.
Congenital Hypothyroidism Overview
What Causes Congenital Hypothyroidism?
Congenital hypothyroidism is usually genetic. Parents can pass down certain traits to their offspring that increase the likeliness of developing the condition. Given this, the following are examples of traits that indicate a genetic predisposition:
- Defective production of thyroid hormone – Problems in the receptors of the thyroid or general lack of functioning thyroid cells to help with the production of hormones can cause this to happen.
- Problems with the pituitary gland – It is the pituitary gland that is responsible for producing thyroid stimulating hormone. This particular hormone is what signals the thyroid gland to produce more thyroid hormones.
- The mother’s thyroid disease – It is possible that abnormalities regarding a mother’s production of thyroid hormones would affect the development of the baby’s thyroid gland. Given this, it is possible that the baby would be born with an underdeveloped thyroid gland.
There are also certain traits that are not genetic in nature:
- Underdeveloped thyroid gland
- Thyroid gland not located where it should be (below larynx)
- Missing thyroid gland
Congenital Hypothyroidism Symptoms
In many cases, babies initially appear completely normal at birth with no obvious symptoms. However, for babies with congenital hypothyroidism this will eventually change. The following are the various signs and symptoms that are associated with having congenital hypothyroidism:
- Jaundice (yellowing of the skin and the whites of the eyes)
- Poor muscle tone
- Hoarseness or change of cry
- Feeding problems
- A thick, large tongue
- A swollen abdomen, out-pouching of belly button
- Large soft spots of the skull
If you observe any of these signs in your baby it is crucial that you consult with your physician immediately. As mentioned, these signs may not manifest at birth, it may take weeks for the symptoms to be physically detectable.
Congenital Hypothyroidism Diagnosis
Standard screening tests usually call for the congenital hypothyroidism test a few days after birth. The tests are very effective in the immediate detection of congenital hypothyroidism. Due to this, infants are now able to receive the necessary treatment prior to the manifestation of symptoms. When performing blood examinations, doctors and medical technologists check for the following:
- T4 – a thyroid hormone
- Thyroid-Stimulating Hormone – As mentioned, the pituitary gland produces this hormone and this signals the thyroid gland to produce more thyroid hormone.
If a doctor detects an abnormally low amount of these hormones, they will likely suggest a diagnosis of congenital hypothyroidism. Should a doctor suspect congenital hypothyroidism, they may also request a thyroid scan or ultrasound to gather more information about the child’s specific case. It is through these exams that a medical professional will be able to specify the size and location of the thyroid gland or even if it is completely missing.
Congenital Hypothyroidism Treatment
Treatment is now easier given that diagnostic procedures for congenital hypothyroidism are now efficient and quick. A physician’s priority is to create a supplement for the missing or deficient thyroid hormone. You can do this by crushing a hormone pill and mixing it with baby formula.
It is crucial that you avoid mixing hormone supplements with soy protein-based formulas. This is because soy protein can affect the absorption of the supplement. It is necessary that treatment begins as soon as possible in order to avoid the adverse effects of insufficient thyroid hormones. Being that this condition is often rooted in the underdevelopment of the thyroid gland, affected individuals will often have to undergo lifelong thyroid hormone therapy.
To learn more about what it’s like to live with congenital hypothyroidism, watch this video by Kelley Fitz
Congenital hypothyroidism is something that requires a lifetime of therapy. However, if your child happens to have it, there is hope. They can still lead normal and high functioning lives provided they receive the necessary treatment early in life. It is crucial to carefully watch out for the signs and symptoms of congenital hypothyroidism. If you observe that your baby has been experiencing any of the mentioned signs and symptoms in this article, consult with your doctor immediately.
Do you or your child have congenital hypothyroidism? Please feel free to share about your experience in the comments below!