The National Academy of Hypothyroidism strives to spread knowledge about the thyroid and the various conditions that plague it. We talk a lot about hypothyroidism and the proper lab tests that are required for an accurate diagnosis, but one form of hypothyroidism that doesn’t get the publicity it deserves is congenital hypothyroidism.
What is Congenital Hypothyroidism?
Congenital means “from birth” and hypothyroidism is commonly defined as a low-functioning thyroid gland; however, hypothyroidism also occurs when there is a T4 to T3 conversion issue. So congenital hypothyroidism is hypothyroidism present at birth. This can occur either through a child being born without a thyroid gland or a sub-optimal functioning gland and affects 1 in about every 2,000-4,000 newborns.
What are the Symptoms of Congenital Hypothyroidism?
The symptoms of congenital hypothyroidism may be hard to notice right away depending on the severity of the condition, but you should be on the lookout for the following symptoms,
- Excessive sleeping/decreased activity
- Poor muscle tone
- Infrequent bowel movements
- Exaggerated jaundice
- Low body temperature
- Lack of interest in feeding
- Hoarse cry
If the condition is severe (typically in the absence of the gland), the following physical signs occur,
- Enlarged tongue
- Abdominal distention
- Umbilical hernia (belly button extension)
How is Congenital Hypothyroidism Diagnosed?
Many countries, including the U.S., have made this a part of their mandatory newborn screening. The test includes a heel stick to draw a small amount of blood which is then sent off for analysis. The results are then sent to the primary care physician who will follow-up with the parents regarding the results.
The tests that are being ran to check for congenital hypothyroidism are the TSH (thyroid stimulation hormone) and the Total or Free T4 (interesting that this test isn’t ran for adults who complain of hypothyroid symptoms…). If the T4 level is decreased or the TSH is elevated, the baby is thought to have congenital hypothyroidism.
What is the Current Treatment for Congenital Hypothyroidism?
It is important to confirm diagnosis and begin treatment within the first 10-13 days; ideally optimizing the thyroid levels by 3 weeks of age. Currently, the medication being given to babies suffering from congenital hypothyroidism is levothyroxine (T4). This may prove less beneficial as the child ages and after a certain age may consider a straight T3 or T3/T4.
What can Congenital Hypothyroidism Cause if left Untreated?
If left untreated, congenital hypothyroidism can lead to various issues including,
- Poor growth
- Delayed development
- Severe mental impairment (IQ below 80)
It is important to be aware of the conditions associated with the thyroid. It is especially important to know about congenital hypothyroidism if you are pregnant, planning on becoming pregnant, or are currently a parent. Make sure you know the signs and symptoms to get your child the help they need!