The Importance of Thyroid Treatment in Down Syndrome
Many symptoms of low thyroid function (hypothyroidism)— including mental retardation and slow growth—are eerily similar to those of Down Syndrome. Indeed, low thyroid function is a usual part of Down Syndrome, and yet most physicians are lax about this entirely treatable problem. It is quite likely that much of the “syndrome” of Trisomy 21 is the result of low thyroid function, especially in infancy and childhood. Be aware that this page contains discussions of parents, not medical advice.
| Symptoms |
Diagnosing Hypothyroidism |
Symptoms: Hypothyroidism or Down Syndrome?
Following is a list of symptoms of low thyroid in infants. Much of this list is from Mary Shomon’s book: Living Well with Hypothyroidism.
- Puffy face
- Swollen tongue
- hoarse cry
- cold extremities, mottled skin
- low muscle tone (floppy, no strength)
- poor feeding
- thick coarse hair that grows low on the forehead
- large fontanel (soft spot)
- prolonged jaundice
- herniated belly button
- lethargic (lack of energy, sleeps most of the time, appears tired even when awake)
- persistent constipation, bloated, or full to the touch
- little to no growth
- Mental retardation
- Low body temperature
- Orange skin
- Thinning hair
Cretinism is one of the first causes of mental retardation that was identified as treatable. It is caused by insufficient thyroid hormone in infancy and childhood. Cretinism was identified a hundred years ago and today is routinely tested for and treated. Yet when a child with Down Syndrome is hypothyroid, well, “that’s just an expected part of Down Syndrome.”
Nikki remarks:
It was interesting to me that when I read this list as there were two symptoms that my boy had that I had never read about in my earlier thyroid search. My alternative doc pointed out them out to me. My boy has a herniated belly button and his eyebrow hair grows almost together. It doesn’t look weird cuz he’s a blond, but it is there nonetheless. We also have the poor feeding, still have a soft spot on his head, constipation was a three year battle, little growth, mottled skin…so well duh, wonder if he’s hypothyroid?
Alice writes:
I learned on a thyroid list I’m on that swelling of the tongue is one of the possible symptoms of low thyroid function. I thought that was a very interesting bit of info, with regards to Down Syndrome.
Teresa adds:
Just for your info, the tongue can hypertrophy by ten times (in other words enlarge) from lack of use. That is, not swallowing properly, letting the tongue sit on the floor of the mouth and not the roof of the mouth. I think most Down Syndrome kids if not all need thyroid. They may not need it all their life but they will at some point and missing thyroid is a huge mistake.
Nikki grumbles:
Just in case you haven’t put two and two together…how many times have we heard that one of our kid’s hair is falling out…you know…it’s been called alopecia. Well, it’s part of hypothyroidism. Just one more thing that the medical community hasn’t helped us with.
Ginger cautions:
Careful of completely jumping to that conclusion without checking out both things. Kids with Down Syndrome are prone to both hypothyroidism and alopecia. Hair falling out is a symptom of both, so you need to really determine the etiology of the problem. There are multiple ways that our kids’ thyroids can be failing, one of which is an autoimmune disease, just like alopecia (and several other autoimmune things that kids with Down Syndrome are prone to.) I agree—don’t let your doc say its alopecia without checking thyroid function.
Nikki groans:
Just soooo much of Down Syndrome intertwined with hypothyroidism. But to date, I haven’t heard one parent say that their pediatrician had any clue about thyroid and Down Syndrome. Does anyone wonder what the kids a generation before us would have been like had they had their thyroids taken care of? Arghhh!
Kathy R. sighs:
My husband’s brother is 43 and has Down Syndrome. Guess how old he was when a doctor finally thought to check his thyroid levels? Give up? Forty years old. And yep, he was hypothyroid. As my thirteen year old daughter said, “It makes you sad to think of what he might have been.”
Diagnosing Hypothyroidism
Priscilla gives the basics:
The TSH stands for Thyroid Stimulating Hormone. It is the main test given to check for thyroid problems. It is supposed to be lower than 6.0 or so, though it is a little different for different labs. Kids with Down Syndrome are supposed to be checked yearly on this level as they tend to have lots of thyroid problems. In fact, one doctor with over 1100 Down syndrome patients says it is not a matter of if they will have thyroid problems but when. The lower this number is the better. If it goes much above 6 they will usually put them on a thyroid medication (e.g. Synthroid). When the TSH number is high then they are hypothyroid. They don’t grow, tire easily, can have dry skin, and it can affect the brain making them slower and causing more damage there. So it’s pretty important.
Jo:
I finally got the results of the blood work that Andrew had done. Our pediatrician called and said everything looked great. I would love some other input.
| T3
TotalT4 TSH |
0.9
9.3 6.38 |
normal range = (0.8 - 2.0) NG/ML
normal range = (7.3 - 15.0) MCG/DL normal range = (0.3 - 5.0) UIU/ML |
Kathy R. wonders:
Did he say the TSH was “great,” too? I was under the impression that a TSH above the “normal” range would qualify for a diagnosis of hypothyroidism.
Ginger urges:
The TSH is high. If he is showing any signs of hypothyroid such as low body temperature, sluggishness or slowing of growth, I’d hop right on this. There is research which shows that a TSH of 5.7 was connected with reduced growth in Down Syndrome. His T4 is normal, but his T3, which is the more active version, is scraping the bottom of the barrel of normal.
Jo describes symptoms:
Andrew has been lethargic. He always has more of a reaction to cold than other people and about his growth it’s hard to tell since he is always below his twin brother. He is already on Synthroid. What do you mean when you say his T3 is scraping the barrel of normal? What does the T3 mean?
Kathy R. explains:
Since the T3 is low normal, maybe this means he has trouble converting T4 to T3. So maybe he should be on a thyroid medication that has T3 in it instead of Synthroid (levothyroxine) which only has T4. Especially since he still has symptoms of hypothyroidism.
Ginger agrees:
I’m gonna say that his dose probably needs to be adjusted upward, and perhaps have your doc consider something with some T3 in it like Armour. Lethargy and cold sensitivity are two classic signs of hypothyrodism in Down Syndrome. You should take his temperature with a mercury thermometer for a few days. In the Wilson’s syndrome literature, they suggest not using the basal temperature. They suggest taking the temperature by mouth at about noon, 3pm and 6pm (doesn’t have to be exact, but three times during the middle of the day). Take the temperature for a minimum of five minutes and preferably ten. Use the average of these temperatures to figure his body temperature. Under 98° F taken that way is a signal that you have functional hypothyroid.
As far as growth, I’m not asking compared to his brother, but against his own growth curve. You can see as growth is plotted over time that kids fall into a particular growth pattern. Kids with Down Syndrome tend to have a “relaxed” growth pattern. But they will generally grab a growth curve line and bounce around fairly close to it. Carmen has always been at about 25% on the normal charts. When I saw her falling away towards the 10% and then below that, I knew there was a problem. Got thyroid treated—bam she’s back to 25%. So, compare him to his own growth pattern.
Nancy writes:
I just took Chris’s temperature and I’m trying not to panic. He was sound asleep and dressed very warmly. It’s midnight (the only way I’m going to be able to take it with him resting). I used a brand new digital thermometer (accurate to two-tenths of a degree), took an axillary temp three times and got 95.6, 95.5, and 95.9.
Ginger answers:
It is not time to panic, but it is probably time for some action. First, most of the books suggest that you use a mercury thermometer, not a digital one, and that you take the temp for at least ten minutes. Axillary temps are usually one degree below rectal or oral temperatures. For the Wilson’s syndrome protocol, they say to take the oral temperature three times during the day, not the basal temp, and that the temperature should be above 98.2°F. The Broda Barnes Foundation is a proponent of the axillary basal temperature for detecting hypothyroid. For either adjustment, those temps are low. I’d retake with a mercury thermometer, but I bet its still time for action.
Nancy continues:
My son is already on Synthroid 25 mcg and his last labs showed a TSH of about 2. His lab values have mysteriously moved around both before the medications and after. Something is up and I’ve known something has been up for a while. I’ve got to figure out what it is soon without her help and find another doctor to work with, since my pediatric endocrinologist doesn’t seem to have any information other than textbook cases and is not much of a help.
He’s had a major problem with constipation always, has low energy, looks chubby although is not at all overweight, sleeps almost too well.
Ginger replies:
Those sound like symptoms of hypothyroid to me. He might either need a bump in his Synthroid, or he may need some T3. There are two different kinds of “hypothyroid.” The first is low T4. That means the thyroid is just not pumping out enough stuff. More Synthroid (levothyroxine) will fix that. The other problem, and this one is described in the Wilson’s syndrome literature, is that T4 is not properly converted to T3, which is the active form. You can add T4 until you’re blue in the face (or in the case of hypothyroid, blue in the lips and fingernails!!) and it won’t solve your problem. For that, you need some T3.
Nancy decides:
I think I need to find a doctor who treats thyroid aggressively.
Ginger suggests:
If you are being agressive in thyroid treatment, keep a wary eye out for symptoms of HYPERthyroidism as well. Please be very sure to work with your doctor to monitor your dosages. HYPERthyroidism (too much thyroid hormone) is every bit as dangerous as untreated HYPOthyroidism, so please be careful. Symptoms of hyperthyroidism include nervousness, aggressiveness, sleeplessness, high body temperature, weight loss (or gain if they start eating ravenously due to increased metabolism) and rapid heart rate (a potentially very dangerous symptom!)
This is not a “set it and forget it” kind of thing. Thyroids fluctuate and need to be followed on a regular basis, adjusting medications when appropriate.
A concerned mom:
My son is not growing but the pediatrician says he is normal on the Down Syndrome growth charts.
Lucy exasperatedly writes:
This makes my blood boil. Why do they want to use Down Syndrome growth charts? You would never take a bunch of cancer patients chart their height and weight, then refer to that chart and say, “Don’t worry about your weight. You are on the chart for cancer persons.” No, they would say, “It looks like there is a problem with weight loss in cancer patients. Maybe we need to look into the cause!” The Down Syndrome growth charts are just an excuse not to treat a problem.
Ginger agrees:
Dr. Leichtman has made similar comments. He wants to see how children with Down Syndrome are doing relative to normal. I make sure that my pediatrician plots Carmen on both the normal and the Down Syndrome charts, but I am always most interested in seeing where she is on the normal chart myself.
Ginger writes:
There are several things to be aware of as you address thyroid problems in yourself or your child. First is the aversion of the mainstream medical community to prescribe thyroid unless the labs are out of control.
The second, and more insidious point, is that often doctors expect our kids to be short and retarded. What are the bottom-line consequences of being hypothyroid? Short and retarded (and a few other symptoms that read like a textbook description of Down Syndrome!) What were my complaints bringing Carmen in to my regular pediatrician before her thyroid was treated? Not growing well.
I knew something was wrong, but the symptomology I was complaining about was within the range of expectations of my pediatrician. In his mind, I was being unreasonable for expecting that my daughter will not be so stunted in her growth. I don’t want to single my pediatrician out—I think darn near any mainstream pediatrician would have reacted exactly like he did, and I have found my pediatrician to be more open than most to changing his mind given new data. I handed him a copy of the research article that talks about reduction in growth with a TSH of 5.7 and that really made him sit back and think.
The other thing I learned is that you can indeed have perfectly normal labs and be hypothyroid. There are eight known antibodies against various parts of the thyroid cycle. They only test for two, and possibly a third if you show clinical symptoms of Graves disease. In my own case, I had perfectly normal labs, and felt rotten—showing many of the classic symptoms of hypothyroid, including low body temperature. I am now taking a thyroid supplement and I feel much more energetic.
Other pages and posts on this site relating to thryoid treatment.
Disclaimer:
As we work to keep our children with Down Syndrome healthy, it is wonderfully helpful to build on the research and experience of parents who have gone before us. The health of our children is a major topic on the Einstein-Syndrome list. The discussion above is selected posts from the list. This does not constitute medical advice, but only the experience of other parents dealing with Down Syndrome.
Remember that every child is different. What works for one child may not work for another. The ideas presented here are sometimes out of the medical mainstream. Your doctor may not endorse them. We strongly advise that you use our discussion only as contributing data for your own research, consult with appropriate medical professionals and make your own decisions. If, after doing your research, you decide to follow a practice that is out of the medical mainstream, carefully monitor your child’s progress by appropriate medical testing and oversight.
