This is the question I get asked most frequently. Let me answer this and a few other common questions. This is just information I have collected over the years and not an official medical opinion.
What is Congenital Hypothyroidism?
Congenital basically just means you are born with it instead of acquiring it later in life. Hypothyroidism usually means an underactive thyroid gland (as opposed to hyperthyroidism which is an overactive thyroid). With children, it can mean that they are either born without a thyroid gland, they are born with an underdeveloped or misplaced thyroid gland, or they are born with a thyroid gland that just doesn’t work as it should. For my kids, it’s the latter – they have thyroid glands that seem normal, but just don’t work. In general, hypothyroidism means your body isn’t making enough thyroid hormone and hyperthyroidism means your body is making too much thyroid hormone.
What difference does it make if your thyroid gland works or not?
The thyroid gland is a major control system in your body. Thyroid hormones control metabolism, growth, body temperature, muscle strength, appetite and the health of your heart, brain, kidneys and reproductive system. In other words, it’s a huge deal if your thyroid hormones are off, especially if you are an infant or young child.
Where is the thyroid gland located?
The thyroid gland is the butterfly shaped tissue in the center of the front of your neck.
How is Congenital Hypothyroidism diagnosed?
It is usually diagnosed through a blood test (heel stick) that is part of the newborn screening panel that is mandatory in many countries now, including the US. The newborn screening test is typically done before your infant leaves the hospital. Results indicating a high TSH are usually what you hear about first as a parent. You will want to ask about FT4, T4 and T3, also though. My sons were tested a day or two after they were born, and then multiple times after that.
What symptoms would I notice as a parent of an infant with hypothyroidism?
The things I was told to look for are: sluggish/sleepiness, dull or puffy face, jaundice (yellowish skin), constipation, not feeding well.
Is Congenital Hypothyroidism genetic?
In some cases it is, but in others it is not. Considering that my husband and I have thyroid problems, it seems likely that it is genetic for our kids. Some research has linked iodine deficiences in mothers to congenital hypothyroidism. Research is being done in this area, but more needs to be done, but how congenital hypothyroidism is treated is, for the most part, the same regardless of how it is acquired.
How is Congenital Hypothyroidism treated?
It is treated with thyroid hormone replacement, which is usually administered as a daily pill (Synthroid, Levothyroxine, etc.). In some countries, a liquid form of the medication is available, which is great for administering to infants, but there are still questions about whether the medication is stable in a liquid form. As far as I know, the liquid form is only available in the US through compound pharmacies and many endocrinologists advise against it. It would be great if one day we could have a liquid form that was stable and available to all infants because it would be so much easier to give the medication to infants.
-By Blythe Clifford aka Thyroid Mom