The newborn screen came back as abnormal. Your baby has congenital hypothyroid what does that mean?

My two daughters, The younger, Juli has congenital hypothyroid.
My two daughters, The younger, Juli has congenital hypothyroid.

You're told your baby's newborn screen has come back abnormal. You take your infant to the lab, for additional testing. They order thyroid tests. Thyroid tests? Why are they taking thyroid tests if the PKU came back as abnormal???

This was a scenario I personally lived through with my daughter, who is as of this writing 6 months old. I have been a pediatric nurse for more than 12 years, working in everything from NICU to ER, to critical care transport. This was my second daughter. Yet, in spite of all of that, I didn't know what to make of this information. Congenital hypothyroid? What is congenital hypothyroid? As I talked to my pediatric nurse friends, they didn't know what to make of it either. So, I am writing this in hopes that another mother or father who finds themselves going through the same thing can find information and comfort here.

The newborn screen - not just PKU. We call it the PKU test, we have labels on foods and drinks with warnings for people with PKU, but the newborn screen encompasses many other things, among them congenital hypothyroid, which is ironically more common than PKU. Why do we screen newborns for hypothyroid? Congenital hypothyroid is a preventable cause of mental retardation. The earlier it is caught, and thyroid replacement is started, the better the outcome.

No one knows what causes infants to be born with congenital hypothyroid. There are cases of families with multiple children with the disorder, suggesting there may be a genetic factor. However, these cases seem to be sporadic at best. We know that iodine deficiency in diet can cause thyroid deficiency, which is why salt here in the U.S., and I suspect in many other countries, is iodized. The vast majority of cases though have no known reason. What does this mean? If your child has hypothyroid, you did not do anything to cause it. So, if you have been blaming yourself, you can let it go.

What are the signs and symptoms of Congenital hypothyroid? The findings of children with hypothyroid, are also found in infants with no disease. Often the babies are born late, and large. Commonly you see umbilical hernia (a belly button that sticks out and can be pushed back in), large fontanels (soft spots), and a large protruding tongue (baby sticks out his / her tongue). Jaundice (yellow skin) that takes longer to go away is also common. As time progresses baby may not eat well, may gain or lose weight, may be floppy, may sleep excessively, may not grow in length as expected. As more time goes by brain development becomes affected. This is why we have newborn screening. This is also why once your doctor prescribes thyroid replacement for your baby you must fill it and give it every day as directed.

What additional tests will my baby receive / need? At a minimum, your baby will receive a blood test after receiving the abnormal results, and at regular intervals thereafter to ensure that the appropriate balance is maintained. My endocrinologist sees us every 3 months for the first year of life because of the rapid growth that takes place during that time period. Additional tests may be ordered. These can include ultrasounds, and other radiologic scans to determine if there is any functional thyroid tissue. You should talk with your doctor and discuss the risks and benefits of each of these exams. You should then make a decision together as to the necessity of each of these. I personally was prepared to agree to an ultrasound of the thyroid, but would have refused additional scans as I prefer not to subject my children to additional radiation unless necessary. There are many things for which I would agree to CT scans, xrays, MRIs, etc for my children because I believe them to be very useful. However, none of the options in this case would change my daughters treatment. As it happened, my endocrinologist did not recommend these.

How do we treat hypothyroidism? Just like adults who have hypothyroid, babies who are diagnosed have to take thyroid replacement every day. If you see an endocrinologist who does not specialize in children, consider asking for levoxyl. This is a brand name of thyroid replacement that dissolves exceptionally well in milk or water, making it easier to give. The generic is exceptionally difficult to mix. Be prepared to pay for the first prescription, usually about $30 as many insurance programs are not yet active for babies by the time you receive the diagnosis. It is very important not to wait, even a few days to start the medication. Also be prepared to tell the pharmacy that you want the brand name not the generic. The medicine should be mixed with a small amount of water or pumped breastmilk, and given with a bottle or oral syringe. It is generally not recommended that you give the thyroid medicine with infant formula, as it contains iron. You also should not mix it in a full bottle. The reason for this is that your baby may not take all of the bottle, and you will have no way to know how much medication was taken in.

Will my baby be ok? Babies who are started on medication quickly, and who are given their doses every day, and receive their follow up testing tend to do very well. So, give the medicine, every day, no matter what. Do not try to double up dosing as that will not make your infant any smarter. Instead it can cause hyperthyroid, which can also cause problems. Continue to take your baby to regular pediatrician visits, and get your baby vaccinated. The vaccines have no interaction with the thyroid medication, and your pediatrician can help you follow your baby's developmental milestones.

Will my baby have to take medicine forever? The answer to this is maybe. At 3 years of age it is generally recognized that your child's brain is developed enough to try going without medication. Some children will have started making enough of their own thyroid, others will not. If your child has not started making sufficient thyroid, then yes, your baby will have to take thyroid medication every day. Yet, that is such a small price to pay for keeping your baby healthy!

MEDICATION UPDATE: Levoxyl - a brand of thyroid replacement known for its ease of mixing with water may not be available again until next year. Expect your endocrinologist to replace it with another brand or generic. If you have a baby or young child who will not chew their medication you need to invest in a pill crusher. These are inexpensive and found at any pharmacy. Put the desired dose into the pill crusher and crush it. Then mix little bits at a time in little bits of water on a spoon and give it to your child. Alternately, wet your finger with a little water and touch the medication powder, then put it on your child's tongue. Repeat each method as necessary to ensure your child received all of the necessary medication. I know it's not ideal, but you CAN do this!

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sassydee profile image

sassydee 4 years ago from los angeles, ca

really I thought it was rare for a baby to have any thyroid problems, did you get a second and/or third opinion?


H Montealegre profile image

H Montealegre 4 years ago Author

Sassy it is rare, but still more common than PKU. I did not need extra opinions, her lab results were very clear


phildazz profile image

phildazz 4 years ago from Toronto

Thanks for the data, I was under the impression that thyroid problems occur late in life. It's amazing you caught it...you know, a baby can't tell you a problem.


H Montealegre profile image

H Montealegre 4 years ago Author

Your welcome, most people are surprised to know that thyroid problems can be present at birth. Thank God for newborn screens!


H Montealegre profile image

H Montealegre 3 years ago Author

Shalini - hope all is going well for you and your baby : ) Glad you found this helpful! Now that he is a little older you may have even more of a fight on your hands to get the medicine down. Be persistent, try not to get upset or raise your voice. If the medicine comes out, it goes back in. Remember this medicine will continue to help his growth and brain development.


H Montealegre profile image

H Montealegre 3 years ago Author

Glad you enjoyed it : )


Jenna 2 years ago

Thanks for sharing!

I have 2 daughters 1.5 yrs apart), both had newborn screening lab results that showed abnormal TSH and FT4 at birth. I was skeptical that they really had hypothyroidism because the diagnosis is a numerical range that is based on the age of your child at the time of testing. Both kids were on the cusp of the range. We had xrays done which confirmed that they had thyroid glands. I was tested for hashimoto disease which can cause hypothyroidism in infants. I don't have it. The statistics show that 1 in every 4000 infants will be diagnosed with it, yet both of my kids have it. I was in disbelief but continued with treatment anyway.

I talked to several pediatric endocrinologists and they all told me that my kids would not outgrow it. However, I am not giving up. I want to be 100 percent sure that my kids really need this medicine and not just taking it out of precaution.

I am fortunate enough to work at and have access to the country's top pediatric hospital in Boston. I consulted with the endos and we carefully reviewed all my kids labs. My oldest daughter is 3 years old and she has been on the lowest levothyroxine dosage available for the last 1.5 years. The specialists now think she doesn't need meds after all and in fact, she had an underactive thyroid which has now corrected itself. It takes 3 weeks to get lab results after discontinuing meds, but so far so good! If you question something, don't give up, find answers, talk to others.


H Montealegre profile image

H Montealegre 2 years ago Author

Thanks Jenna! Best of luck to you and your girls! I also work at the children's hospital where Juli's endocrinologists are located so I have also been blessed in the aspect of ready availability of excellent care.

Our endocrinologists had always told me that if we never had to increase the levothyroxine that at age 3 we would trial off of medicine. While certainly from your comments that is sounding like a possibility for your oldest, Juli is definitely going to be continued on meds. She is up to 50 mcg a day from a starting point of 37.5 and a low of 25. We are happy that she is doing well on that dose, and are still meeting with the endocrinologist every 3-4 months (though hope it will soon be every 6!)

I'll be praying that your girls thyroids do in fact catch up with them and that they get to be medicine free (and that your oldest gets to stay medicine free since she is on her trial now.) I certainly understand you not wanting to given them medicine if they don't need it.

It would be nice if one day they could isolate all of the causes of congenital hypothyroidism. In the meantime I'm just happy that we live where newborn screens check for it, and would love to see it more frequently screened in countries where it is not regularly checked.


Tori 2 years ago

Thanks for the info about Congenital Hypothyroidism. My daughter (2 months now) was diagnosed with CH when she was born. The endocrinologist believes that it is transient, and as a result of the Amiodarone I took in utero to correct her fetal heart condition. She takes levothyroxin. Now at 2 months, the paediatricians are starting to check my daughter for other conditions. She is hypotonic, has a depressed nasal bridge (button nose), a tongue that sticks out a bit, and lowish set ears, doesn't track very well yet, has feeding issues, and sleeps a lot. She's also getting an ultrasound tomorrow to rule out hydrocephaly because her head has grown a great deal (it was big at birth, that's familial, but now it's 17" which is concerning.) Anyway, my point is, I've been trying to research whether all her symptoms (which could mean so many scary things) could just be a result of her CH and therefor treatable. Your article was the first I came across that wasn't a medical document. It was easy to read, yet clearly you understand the topic. So, I wonder, in your experience, would the hypotonia, sleepiness, and even the flat nose and other facial markers, start to go away once the thyroid levels are back on track? Would it happen right away or take a little while? I just wonder (pray) that CH could explain these issues, instead of something scarier like Cerebral Palsy or a Genetic Syndrome (she doesn't have Down syndrome, but other possible ones.)


Nick 22 months ago

Thank you so much for the post. I happen to reach here when my first kid 2 months old was declared with the same abnormal results in his repeative third test.

Dr advise me to start with endo now. Bit worried I've never took these tests as serious, bt bit nervous now.

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