My 5 year old daughter was preliminarily diagnosed with Pituitary Resistance to Thyroid Hormone. She has a follow-up MRI of her pituitary gland scheduled for October to rule-out a TSH-secreting pituitary adenoma. She had an MRI done in April that showed a 5 mm micro-adenoma which the doctors are assuming is an incidental-oma since it is small and her alpha-subunit test came back normal. Her thyroid levels were first found to be off in December 2009 and have been that way on 5 separate occasions since. They even used a different method to test her T-4 that they felt was more accurate. Her latest bloodwork showed the following levels:
TSH: 1.44 (.32 - 5) NORMAL
Free T4: 2.31 (.8 - 1.8) HIGH
Free T3: 5.8 (2 - 3.5) HIGH
I am looking for other people who have experience with this illness. Since she is only 5 years old, she has a hard time telling me how she feels and how the medicine is helping her. Her symptoms that made us first see the doctor were high temperature, rapid heart rate, frequent diarrhea, hyperactivity followed by lethargy, extreme hunger, inability to gain weight, and inability to concentrate. Some of these symptoms have improved with the medication they have prescribed: a beta-blocker called Atenolol.
Again, I'm hoping to hear other people's stories about this illness. I'd like to know about symptoms experienced and how to "live with it" since the atenolol that she is taking doesn't fix everything. The doctor also doesn't really want to keep her on the atenolol for longer than 1-2 years. Does anyone have experience of the symptoms getting better with age? Thanks again for all your help! It will be great to meet some other people with some experience.
I am still around. My daughter has been officially diagnosed with Resistance to Thyroid Hormone since her follow-up MRI showed now change in her pituitary tumor. They are considering it unrelated. I was wondering if you have any information you could share. Since she is a child it is really hard to tell how she is feeling. I was hoping you could share some of your expertise. Let me know what you think...and thanks for your help!
Last edited by moderator2; 03-07-2011 at 06:31 AM.
I'd be happy to help you and your daughter along on your journey. I've looked for many years and although I know of a few other people who have RTH, I've never been able to make contact to speak with them. Mostly, I just research.
I'm 52. The diagnosis of RTH was finally suggested when I was in my 30's, treated as such with beta blockers and confirmed about 3yrs ago. It's not a common disorder and I was treated for all kinds of things along the way but mostly just left the doctors scratching their heads. As a child, I was diagnosed as being hyperactive - what they'd call ADHD now. They tried tranquilizers and phenobarbital which didn't slow me down a bit. They finally gave my mom the tranquilizers and told her good luck. We both survived. Although I did get sick more often than my sisters did, I actually had a pretty good childhood bopping around within my warped sense of normal. I think children are a lot more adaptable than adults. It's also not been attributable to fatalities or grave illness so there hasn't been much in the way of studies on how it actually feels and none on the long term effects. The researchers seem more interested in looking at the fascinating genetic basis of the disorder and how things work on the molecular level.
Atenolol does help control my symptoms. No, it doesn't fix everything but I still love it. I've been taking beta blockers for almost 20yrs. I'm a little curious as to the reasoning for only 1 or 2 yrs??? What type of doctor is treating your daughter? Has he/she ever had experience with RTH or ever even seen a patient with it? I've never seen one who has although I have a wonderful doctor now who was willing to learn and knows how to listen.
Symptoms can wax and wain. There'd be times when the only sign was a rapid heart rate. Those periods could go on for years but stress can often bring out the tremor and a few other symptoms. Every major long term exacerbation of symptoms for me has followed certain viral infections. I think there's a relationship that causes something to shift. I've also learned not to do anti-thyroid meds or systemic steroids. They can be a real trip. Another no-no is removing the thyroid to try and treat it. It'll grow back in RTH although I never tried it. I read about one woman who had hers removed 5 times and her daughter 3 before they stopped trying. They also don't recommend radioactive iodine treatment. I've had that suggested many times by doctors who don't know any better. Atenolol is currently the mainstay of treatment. They've had some success by suppressing the pituitary with TRIAC, d-thyroxine (neither of which is available in the US) and Cytomel. I've been taking Cytomel for 3yrs along with the atenolol. I feel I've benefited from it.
It's an annoying disorder but very possible to live with if you know you have it. It's when you don't know for sure what's going on that it'll drive you bonkers but I really didn't start doubting my sanity until I was an adult. A lot of doctors doubted it too but I always knew in my gut that there was a reason for it.
I do wish I had known a long time ago cause I do suffer from some long-term consequences that I strongly believe that proper treatment and monitoring would have prevented. I think your daughter will do fine and I'll be happy to help in any way I can.
Last edited by moderator2; 03-07-2011 at 06:33 AM.
My daughter sees a Pediatric Endocrinologist out of Mayo Clinic. Her doctor has not seen a patient with RTH this young before, but was very knowledgable about RTH from the start. She also saw a Geneticist at Mayo clinic to test for RTH, but under their current knowledge...she tests negative for RTH. Apparently 10% of people with RTH will have a negative genetic test for it...but they still do have RTH. He is hoping in the future there will be more tests available as they learn more.
I'm not sure why they want to take her off the atenolol. I think they are hoping that her symptoms go away as she gets older. She is currently taking 18.75 mg per day...which is 3/4 of a tablet. They keep saying that most people with RTH don't have symptoms because their cells are resistant to the thyroid hormone...so having excess hormone doesn't create symptoms since those cells are only getting the amount of hormone they need...not extra. They figure my daughter's problem is that not all of her cells are resistant....so....the ones that ARE resistant to the hormone aren't getting enough hormone...which results in her body making more thyroid hormone because it thinks it doesn't have enough. There is plenty available...but the cells aren't letting it in, so if there is extra hormone...then some of it will get in eventually...whether the cells are resistant or not. They figure that the other cells throughout her body are NOT resistant, and these cells respond to the excess thyroid hormone and thus create her symptoms.
I have noticed that she seems worse after illnesses as well. She recently had strep throat and for a month after things were "off". She recently had night sweats. Have you ever had that? She also complains of itchy skin and back pain. I can't figure out how any of this goes together. She has another follow-up appt this month...so we'll mention all of this then. She also seems to have very little endurance. Did this happen to you? For example...she may be very hyper and excited about going for a bike ride. Seeing her, you'd think that she'll have a ton of energy. In reality...she can only bike/run/etc. for a short distance and then she gets tired and complains of her legs hurting. When she "over-does-it" that seems to set off some of the other symptoms as well and it takes her a while to get back to "normal".
Her doctors aren't proposing any thyroid treatment. They all seem to know that this isn't a problem with her thyroid...her thyroid is simply following directions and making the hormone like it is being told to. That's why they were looking at the pituitary gland. It also appears to be working correctly...so that is how they diagnosed as RTH. I'm glad her doctors are so knowledgable. They keep saying they'll just have to watch her and see how things go since there isn't a whole lot of research...especially for kids her age.
Do either of your parents have RTH? My husband and I do not. Apparently it is a dominant genetic disorder...so her kids will have it too (from what I understand). Is that what you were told as well? They were surprised that my husband and I didn't have thyroid issues...but they said it is possible a gene mutated only within her and that created the problem. We have two other children that haven't had any issues yet...but they are supposed to have the genetic test done this summer just to make sure.
Thanks again for your help. If you think of anything else, please feel free to share. I'm sure I'll think of more as well.
Last edited by moderator2; 03-07-2011 at 07:23 AM.
I've run across parents of young children who have it. Two mothers and a father. All 4 children displayed symptoms of hyperthyroidism. The two from the father's family had the genetic mutation passed down from their mother. I'm not sure about the other ones. I have not heard from them in a couple years. There's no particular place for people with the disorder to congregate so people have a tendency to drift off and go it alone.
I understand that Mayo is one of the more knowledgeable centers on the disorder but for everybody, it's a learning process. I haven't had the genetic test. My insurance won't cover it because it wouldn't change treatment whether I tested positive or not and since I had a hysterectomy in my early 30's I can't get it under genetic counseling either. Neither of my parents or my sisters appear to have the disorder but have not been really thoroughly tested. I have some TSH results off of some of them, which are normal, but that's as far as their doctors have been willing to go. I've stopped pushing it and am just glad that they don't have any symptoms.
They did a real good explanation for you. It also has to do with the fact that it only affects one type of the two types of receptors. The alpha receptors work just fine. It's the beta receptors that don't let the hormones in. Organs that are predominately controlled by the alpha receptors, like the heart, get more hormone than they need. Also, different people have slightly different distributions of the various receptors and those distributions can vary over time. They don't know why they vary at different times but my personal theory is that infections can play a role and probably other things too.
I've had night sweats on and off for as long as I can remember. Done the itchy skin routine too but don't recall back pain as a child. I had a bit of endurance a lot of the time but I also know the overwhelming exhaustion and weakness which is often coupled with insomnia. You can't slow down but you can't keep going either.
Watch her cholesterol level. They always ignored mine. I had one doc tell me that I was hyperthyroid and therefore didn't have to worry about my cholesterol cause hypers always have low cholesterol. This is while he was sitting there with my lab results in his hand. My triglycerides are that of a hyper, which is fine. It's a receptor distribution thing as to why one's high and the other low and diet doesn't help it for me. In fact, when I go low fat, the cholesterol rises. I developed atherosclerosis. My doc has me doing fish oil capsules now which helped bring it down but it's something I really wish I'd done something about years ago.
Do you find her appetite appalling? I know my folks did. I even won a pig trophy when I was 12 against a group of college boys in a sub eating contest. My friends put me up to it. I've never had much luck putting on weight and was usually the smallest kid in the class.
I'm sure they'll be a lot more but the main thing is, you know what you're dealing with and that is the most important part cause it really is possible to deal with. Each year, they're coming out with more and more advances into the understanding of it. Perhaps by the time your daughter has children, they'll know how to keep it from passing on and perhaps even know how to fix it.
Thanks again for the info. I didn't know about the alpha receptors vs. the beta receptors. I will definitely look into that.
Yes...we were/are appalled by our daughter's appetite. That was one of the first symptoms that stuck out. My sister watched my 3 kids for a week and said she didn't know how I could feed her since she was always hungry. She would eat 2-3 sandwiches for lunch with apple slices dipped in peanut butter and still be hungry (at that time she was only 4 years old!). She eats way more than her sister who is 2 years older than her. I think she eats more than teenagers do some days. Her appetite has gone down quite a bit with her being on the atenolol. We'll see if it surges again this summer if they take her off the medicine. She would always ask for food..even between meals. She wouldn't ask for junk food either...she wanted things that would fill her up. She would eat and eat and still be hungry and was actually losing weight. She is very tall for her age but pretty skinny. She used to be in the 15th percentile for BMI but now with the atenolol she is at the 50th percentile.
Thanks for the tip about the cholesterol. I will try to keep an eye on that. I don't think we've ever had that tested. Do you have any good resources where you found your information on the disease?
Glad to hear the itchy skin and night sweats may be common for her. She had them just after getting over an infection...so I think that had something to do with it. She has been fine ever since. The back pain may actually be due to her uncomfortable bed. She has been complaining about it for a while and I sort of dismissed it. Maybe I'll have to look into trying some more padding to see if it makes a difference or not.
Did you/do you get headaches? She has recently been complaining about them as well. More so after the infection...but they have been lingering. She says that loud noises/voices bother her and make her head hurt.
The reason my insurance allowed the genetic test for RTH was because my daughter's MRI of her pituitary gland showed a small tumor/adenoma. By looking at the scan...you can't tell whether or not it is a TSH-secreting adenoma or just an incidentaloma (a tumor that doesn't hurt anything but is just there). The genetic test was done to attempt to exclude the possibility that the tumor was a TSH-secreting adenoma. If the genetic test would have come back positive...they could have avoided further testing of the pituitary gland. Since it came back negative they had to do a follow-up MRI that showed no change in the tumor...therefore they assume it is the incidentaloma and therefore RTH must be the diagnosis. I think if her pituitary gland had showed nothing...they would have diagnosed as RTH right away without the genetic testing. Now they will continue to monitor the pituitary gland since they know the tumor is there...but it won't have to be as frequent.
Do you have troubles with insomnia? I wonder if she is getting "good" sleep. Again...hard to tell with a child. She seems to wake up with "crazy hair" from tossing and turning all night and rubbing her head into her pillow. She doesn't seem as tired as she did before the atenolol so I just pushed that aside for now.
If I learn anymore at her appointments or any other questions come up...I will be sure to check back. Thanks again for all your help. This is something that most people don't understand so it is comforting to "talk" with someone who does understand. I think when she was not on the atenolol, a lot of people just assumed she was a bratty child that wanted attention and therefore made up her symptoms and her behavior problems were from lack of discipline. The medicine has changed her so much that I know her symptoms make her feel "off" for a better word and that affects every other aspect of her life.
I made it back. Life gets a little hectic sometimes. I have this awful habit of biting off more than I can chew and then I gotta try and get it all done.
I like the nurse's note in one of my hospital charts regarding my psychotic behaviour when it came to food. I was hungry. I guess my appetite appalled her. I can pretty much eat anything I want without much weight gain but when the wicked hungries hit, I know something's up, especially if I see the scale start dropping or not going up while I eat my way thru the kitchen.
Another thing I thought of was osteoporosis. I think there's some connection. It's a really weird pattern too cause I've got it in my hips but have got high density in the spine. They're two different types of bone and react to thyroid hormone differently. Also, although I'm a sun worshiper and have never shunned dairy, I have a vitamin d deficiency. Rapid metabolism? But anyhow, I now do supplements. I wish I had started them earlier.
Headaches have never been a big problem for me. I sometimes get them when I'm really tired but I've never considered them an issue. Usually when I'm that tired, I feel like crap everywhere anyhow.
I've had my pituitary looked at a couple times. I think they've finally given up on that idea. My diagnosis is mainly based on ruling out every other possibility, the pattern of symptoms and test results and my response to feeding me extra thyroid hormone.
I go thru bouts of insomnia. My mom says I didn't sleep much at all. As I got older, I became a night prowler. I don't like laying in bed doing nothing. I had a thyroid bruit, which is a swishing noise of the rapid flow of blood thru the thyroid. If you put your head against the pillow, you can hear it. I'd lay there counting bruits instead of sheep. I actually thought everyone heard that noise until I was in my 30's and a doc got all excited and called in a line of med students to listen to it.
The beta blockers do help my sleep. They calm down the pounding heart that can be real annoying when you're trying to get to sleep and generally make things better overall. I'm on a sliding scale with them. I'm allowed to adjust to the symptoms within a certain range of 25-400mg per day but if I get to 400 I'm supposed to check in with the doc. It has saved a lot of trips to the er cause over the years, I've learned when I need more and I know when it's time to start backing off. I have other meds on hand to treat various symptoms and since I've been given the green light towards more self-management, I've been doing a lot better. I had to laugh at my docs comment at my last visit that he wasn't sending me to any more specialists cause all they do is screw it up. I know a lot of it's a lack of understanding of something that really is kinda weird but darnit, it would be nice if they would listen, especially when you say I wouldn't do that if I were you.
Oh yeah, before she gets shot up with novocaine for dental work or any procedure, make sure to ask for the no-epi stuff. Epinephrine will exacerbate the symptoms. I've learned to put it in my list of allergies but always ask before the shot goes in cause sometimes they don't see it or forget or whatever. It can be used for life or death allergies or something but there's no sense in being uncomfortable if you don't have to be and believe me, it's terribly uncomfortable.
I find it nice to be able to talk to someone too. I've spent a lot of time trying to understand what's going on with me. For a long time, I had no idea. I knew I wasn't crazy but still, sometimes you wonder.
I'm back again. My daughter had her 6 month follow-up with her endocrinologist and she thinks that maybe her symptoms are from something else. I was trying to explain how my daughter seems to have good days and bad days. Usually when the bad days come...they come in clusters, and during that time, many of her symptoms are worse than normal. (her appetite increases, she is more "unsettled", she can't seem to follow direction, is very clumsy, is either bouncing off the walls or laying down with her "far-off" tired & worn-out look, has difficulty sleeping, has leg pain, and loses some of her bladder control) The bad-day clusters are followed up with a string of good days. I can't seem to figure out if there is something that triggers the bad spells...and if there is something, what could it be? Her doctor doesn't think the "episodic" nature of her symptoms fits with the diagnosis of RTH. Her doctor continues to tell us that her symptoms should be pretty constant if from RTH, and most people with RTH do not experience any symptoms at all. That is the main reason she wants to take her off the atenolol as a test. She is hoping that the older my daughter gets...and the more she matures...she will no longer have symptoms. (I believe the doctor's assumption is that the symptoms she is currently experiencing are all behavioral-related) So I would like to know what you think? As you mentioned in a previous post...there really isn't much written from a patient's perspective about RTH...so we are stuck with what the doctors think it feels like. I don't know what to think anymore. I know that my daughter can be sneaky and will use pain as a way to get attention...but yet as a parent, if she really is feeling horrible, I want to know that and be sympathetic. I am thankful for any insight you can bring. I may look through some of your older posts to see if I can find anything else that might help. Thanks again!
What do I think? I think the doc is spewing from a book rather than wanting to learn something new. Doctors can be so closed-minded sometimes. I guess she missed that there's something known as the periodically hyperthyroid phenotype of RTH. I think if I was continuously hyper 24/7/365 for the last 52yrs, I'd be in the nuthouse where a few of them thought I belonged.
Most of the time I'd walk out of a doctors office with the diagnosis of anxiety and depression. As a child I was "hyperactive". When I got old enough for them to justify it in their own head, I got menopausal.
I am so sorry. I know the shock and disbelief you're feeling. It's so not fair to just be dismissed like that. Doctors can make me so furious. The one thing I have discovered is that once they make up their mind like that, it's really unlikely that you're going to change it.
You gotta love the "most people" part. I've heard that one a few times myself. Who says someone has to be a part of the majority? If there weren't minorities, there wouldn't be majorities. People are individuals and deserve to be treated as individuals. People have their own genetic makeup, are capable of reacting to things totally differently than other people and is one of the reasons each person is so very unique. I hate to say it but without that type of individual people respect, a doctor is pretty much worthless.
I could go into a tirade here but you're lucky, I gotta go to work. I mostly wanted you to know that I'm here and that it is no time to start doubting yourall's sanity. If you believe something ain't right, you're most likely right. If it helps at all, I totally believe you.
I'm still around. I'm glad you replied. I've been looking for years for someone else who actually had a firm diagnosis. I know they're out there. They're just real hard to find. You're the first direct contact I've had.
I'd love to hear your story. Ask any questions you have. I've learned a lot about it over the years.
I'm still here too. As an update on my daughter...she had a 3 week trial period this summer where she quit taking atenolol and we monitored her symptoms. WOW....am I thankful for the atenolol! She is back on the medication. While she was off, her heart rate would get up to 160 beats per minute. She could barely sleep and her behavior was horrible...she was so hyper, yet tired from lack of sleep. She has a follow-up with her Endocrinologist and also with the Geneticist that we originally visited. This will be our first time seeing him since her diagnosis. Her appointment is in mid-October. I will try to update if I learn anything new. I would also love to hear your story Claire. It is much easier to cope when you can talk with people who understand what you're going through. Let me know if you have any specific questions you want answered.
Thank you both so much for replying so quickly. It really reassures me to know there are others out there who understand what I'm going through. I am finding it so hard to explain to those close to me.
I first became unwell exactly a year ago now and was signed off work for a few weeks. To begin with I just thought I had a virus or the flu. I was extremely tired and can remember sweating really badly. After a few days I went to my GPs, and they were quite concerned about me so started doing some tests. At this point my pulse was about 135 and I had to go to hospital for an ECG. They also did blood tests, including checking if I was diabetic and my thyroid. My results indicated that my thyroid was overactive so was referred to Endocrinology.
Prior to this, I had been having problems with my mood and had been on antidepressants for approx 6 months by this time.
When I had my first appointment at Endocrine, I was told by the doctor that I saw that they thought it was my contraceptive pill that had caused the high blood results and my thyroid function was more than likely to be normal. I got some more bloods done that day for them to make sure everything was normal and I went home not expecting to hear from them again. The following week I got a phonecall from the doctor in the evening, asking if I had received her letter. This gave me a bit of a fright as I had had no correspondence. She informed me that she was surprised as my bloods were actually not normal and were really unusual.
Unfortunately I cannot remember what all my levels have been over the past year - this is something I think I would find useful to have. I was told that I needed to get more tests done. I asked her if I should be worried, and all she said was its not cancer. At my next appointment after this I was told that they thought I perhaps had a pituitary tumour. I received another test which involved giving me an injection in my thigh (can't remember what this was!) and I was also referred for a MRI scan - thankfully this was normal.
I was then told that I needed to get a more rarer test. This took them several months to get organised as they had to get the test from America. For this test I was in hospital for the morning and they injected something into me and then took blood tests every 30 mins or so. This indicated end organ resistance. Following this they then referred me in April to molecular genetics to look for the mutation in my DNA. I didn't hear anything back for a few months until I attended endocrine again last week. I saw a more specialist doctor this time, who had some knowledge of the condition. Although I don't have the mutation they were looking for, he said that I still have this condition as not everyone does have the mutation. He did try and explain it to me, but I came away unsure. I have been referred to cardiology and have got an appointment there on Monday. I think this is to get a 24 hour tape fitted to see if I need to be prescribed beta blockers. The professor also said that there are also lots more tests which may be done - this worries me slightly as I don't know what this will involve.
Although it has reassured me finding out that there is something wrong, it's now that I have come away you start thinking of questions. It was a rushed appointment as the clinic was running so far behind, so I didn't feel I could ask too much. We didn't really discuss other symptoms. He did check that i have a very mild hand tremor at rest. He said that it was interesting I was on antidepressants and he would write to my GP and recommend another one.
I have problems sleeping - my mind is often racing and full of thoughts. When I get to sleep I usually wake up in the middle of the night. And I feel exhausted a lot of the time. Find it very hard not to fall asleep when I get home from work. My mood seems to be constantly all over the place, up and down. I've been really down the last few days and really tearful. I also worry a lot - even about silly little things. As I haven't had the opportunity to discuss this with someone, it's hard to know if this is all just a coincidence or it could potentially be symptoms.
Sorry for such a long story! I've tried searching for information, but obviously theres so little on it.
Hi Karen It's good to see you again! So how is your daughter doing overall? I never did well without the beta blockers either. I was so glad to have a doc who was willing to prescribe them for all those years before the diagnosis. It's hard to argue with success.
Claire, we all have long stories and nothing helps more than spilling it so go ahead and feel free to let it all out. You'll always find an ear here. I don't know what I would have done if it hadn't been for all the good people over on the thyroid board. They were the closest I could come to anyone who could understand what it was like but I always felt a little out of place because there are some weird aspects to having a normal thyroid yet an abnormal response to the thyroid hormones. It's not a thyroid disease, it's not a pituitary disease, it's a receptor disorder but it has a lot of features of the other disorders. We're weird. But we're also unique and that's ok too.
What you're experiencing is pretty normal. At least for us mutants. You are not crazy. You may have to repeat that to yourself a lot until things get better. The mood thing for me was really hard to deal with. I was offered anti-depressants many times, took them once and didn't like them a bit. The only thing that helped was the beta blockers, until I started taking T3 along with it to suppress the pituitary. Since then, it's been even better. I don't get the TSH surges anymore and my thyroid hormone levels are staying very level. My doc was commenting the other day that he can't believe with all the stress I've been through lately that my thyroid is actually still behaving itself. To tell the truth, I can't either. Stress and viruses were always my worse enemy.
I have a torn shoulder right now. It's kinda taking up most of my concentration. To say it hurts is putting it mildly. This is another case where I'd like to chop off another doctor's head. That is if she had one.
Those are symptoms. Have you kicked or smashed anything yet? What about the appetite? Have you eaten your way thru the kitchen yet? Have you managed to keep your sense of humour? That's terribly important cause if you can't laugh at it, all you've got left is the crying but it will get better. I promise.
You mind me asking how old you are? Have you figured out how long you've had vague symptoms that were sorta normal for you but abnormal by other's standards? Was there something that happened that may have triggered this? I find it interesting that you said you thought it was a virus or the flu at first. My major incidents have all occurred following a virus. Not all viruses I've had, but really bad ones and 2 cases of shingles set it off twice. I've always felt there was some kind of connection.