Congenital Hypothyroidism in Children
Overview
When the
thyroid gland doesn't make enough thyroid hormone, it's called hypothyroidism.
Congenital hypothyroidism is when the disorder is present in a baby at birth. If not
treated, it can lead to serious health problems.
The thyroid
is a gland. It’s located in the neck just below the voice box. The thyroid gland
makes thyroid hormones. These hormones help control metabolism. This is the rate at
which every part of the body functions. Thyroid hormones keep the metabolism at a
healthy pace. This helps the brain, heart, muscles, and other organs work well. A
normal metabolism also helps ensure a healthy temperature, heart rate, energy level,
and growth rate. If a baby doesn't make enough thyroid hormones, it can cause serious
problems, such as mental disability, growth delays, or loss of hearing.
The
condition needs to be treated as soon as possible to lower the chance of these problems
long-term.
Causes
The most
common cause of congenital hypothyroidism is failure of the thyroid gland to grow
before birth. Sometimes the gland is present but doesn't make the thyroid hormones.
Other times the thyroid gland is located in an abnormal place in the neck. This makes
it work less well. Or it can be caused by treatment of a thyroid problem while you
are pregnant.
If your diet is low in iodine, your child will also have low
thyroid hormone levels at birth.
Risk Factors
A child is at risk for congenital
hypothyroidism if they have any of these:
-
A chromosomal disorder such as Down
syndrome, Williams syndrome, or Turner syndrome
-
An autoimmune disorder, such as type 1
diabetes or celiac disease, or a disease involving several hormone deficiencies, such
as pseudohypoparathyroidism
-
Certain genetic conditions that may be hereditary
-
Injury to the thyroid gland
-
Babies born prematurely whose thyroid and pituitary glands have
not yet sufficiently developed
Symptoms
A newborn baby may have no symptoms
at first. Often symptoms begin over the first few months and can include:
- Yellowing of the skin and eyes
(jaundice)
- Lethargy
- Feeding problems
- Large fontanelle (the soft spot on top of a baby's head)
- Dry skin
- A hoarse-sounding cry
- Low appetite
- Bellybutton that sticks out too far
(umbilical hernia)
- Constipation
- Slow bone growth
- Weak muscles
- Lack of energy
- A puffy face
- A large tongue
Symptoms can vary with each child.
Diagnosis
By law, all
newborns are screened in the first few days of life for serious diseases. The testing
is done with a few drops of blood taken from the baby’s heel. One of the tests is
for
thyroid function. The test measures the amounts of hormones from the thyroid. It also
measures the amounts of hormones that tell the thyroid to make more hormones. Your
baby’s healthcare provider may also advise an imaging test of the thyroid gland.
Babies born prematurely may need to have the newborn screening tests repeated a few
weeks after birth to determine if their thyroid gland has continued to mature.
Treatment
Congenital
hypothyroidism is most often treated by giving a child synthetic thyroid hormones
every day. Your child will likely need to take these for several years, and possibly
for life. The length of time will depend on the results of testing and monitoring.
In
some cases, the thyroid gland may start working again. This may happen by age 3. The
thyroid gland will be tested over time with blood tests. This can show if the thyroid
starts working on its own. Your child’s growth and development will also be tracked
over time.
Complications
Congenital hypothyroidism can affect a child's normal growth and development. This
includes sexual development. If untreated, the condition can also lead to:
- Low red blood cell levels in the blood
(anemia)
- Low body temperature
- Heart failure
- Severe mental disabilities
Living with
Congenital
hypothyroidism can affect a child's normal growth and development. It’s important
for
a child to continue treatment. This will help make sure a child reaches their normal
adult height. Some children don't need to continue treatment into adulthood. Work
with your child's healthcare providers to create an ongoing plan to manage your
child’s condition.
When to Call a Healthcare Provider
Call your
child's healthcare provider if you’re concerned about your child's growth, or if
your child has any signs of congenital hypothyroidism.
Key Points
- Congenital hypothyroidism is when the
thyroid gland doesn't make enough thyroid hormones. It’s the most common thyroid
disorder in children.
- Slow growth, lack of activity, and
poor performance in school can be signs that your child does not have enough thyroid
hormone.
- The most common cause is failure of
the thyroid gland to grow during pregnancy, or it's located in an abnormal position
in the neck.
- Treatment may include taking thyroid
hormones to increase the level of hormones in the body.
- Congenital hypothyroidism can impair a
child's normal growth and development. It’s important for a child to continue
treatment as directed. This will help ensure a child reaches their normal adult
height.
Next Steps
Tips to help you get the most from a visit to your child’s healthcare provider:
- Know the reason for the visit and what you want to happen.
- Before your visit, write down questions you want answered.
- At the visit, write down the name of a
new diagnosis and any new medicines, treatments, or tests. Also write down any new
instructions your provider gives you for your child.
- Know why a new medicine or treatment is prescribed and how it will help your child.
Also know what the side effects are.
- Ask if your child’s condition can be treated in other ways.
- Know why a test or procedure is recommended and what the results could mean.
- Know what to expect if your child does not take the medicine or have the test or procedure.
- If your child has a follow-up appointment, write down the date, time, and purpose
for that visit.
- Know how you can contact your child’s provider after office hours. This is important
if your child becomes ill and you have questions or need advice.