Congenital/Child Onset Central Hypothyroidism - Thyroid UK

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Congenital/Child Onset Central Hypothyroidism

Andyb1205 profile image

Thought I’d share this.

"Interestingly enough, clinical and biological parameters observed at diagnosis in the subgroup of CH patients with tT4 and fT4 in the lowest quartile of the normal range were otherwise similar to those found in the patients with tT4 or fT4 below the normal range."

The subgroup refers to child-onset CH who had higher FT4 than adult-onset CH yet this did not signify difference in severity or symptomatology of the CH.

Is anyone diagnosed with hereditary central hypothyroidism? It’s been so difficult finding a doctor willing to work with me. I hit a wall with yet another doctor, who is referring me to a neurologist.

Here are my labs from a week and a half ago, on 112mcg Synthroid.

TSH 0.22 (0.32-5.04)

FT4 14.5 (10.6-19.7) 43% in range

FT3 4.01 (3.00-5.90) 35% in range

B12 518 (153-655)

Ferritin 91 (24-444)

Serum Iron 13.2 (10.6-33.8)

Vitamin D is good.

The difficulty has been with a firm diagnosis for hypothyroidism, I do not have Hashimotos (normal antibodies and ultrasound).

Here's the interesting part, my mother most recently and for the first time had a full thyroid function test.

TSH 2.28 (0.32-5.04)

FT4 12.5 (10.6-19.7) 21% in range

FT3 4.07 (3.00-5.90) 37% in range

TPOab 16 (<35) *my TPOab has been 11-18 over the years

Assuming my mother's TGab and ultrasound is also normal, we both have normal TSH with low-normal FT4/FT3.

1) A year and a half ago off of medication, my TSH was ~2.50 with FT4/FT3 at 31%/30%. I’ve noticed that nicotine artificially increases FT4 so my natural FT4 may be in the 20-25% of range rather than 30%.

2) Mother similarly has normal TSH with low-normal thyroid hormones.

The doctor is against increasing my dose. The improvement of and lingering of symptoms on Synthroid are downplayed, and the risk of hyperthyroidism over-exaggerated. Will be seeking an alternative opinion.

12 Replies

Hi Andyb1205,

I was born with Congenital Hypothyroidism (only partial non working gland), so have been on medication since I was diagnosed at five weeks. I was very poorly and in a coma when diagnosed.

Not sure what my dose was as a child, I know they had to reduce it at around 5 years old, as my bone age was older than by biological age) but from 15 upto 32, I was 200 mcg of T4. GP reduced it to 75mcg because she knew better, obviously not and that was when my problems began. Moving on 23 years and

I won't bore you with the details, but I am now 56 and back on 200 mcg of T4 and 20 mcg of T3. My eldest daughter is being tested for underactive thyroid conditions too. (no conclusive results yet)

My last results were

TSH = 4.37

T4 = 14.8 (12-22)

T3 not tested

Hemoglobin = 49 (just on diabetic range but being retested next week, so hope it has lowered and gone back into normal range)

My ferritin and folate levels also being retested next week.

I have B12 deficiency, Pernicious anaemia and Vitamin D deficiency too. Had these since my medication was messed up. But it also runs in the family and I know it goes hand in hand sometimes with thyroid conditions.

My GP is not adverse to increasing my dose, but I know I feel ok on the combination. I don't want them testing T3 as they will almost certainly say that the T3 medication would be withdrawn because of the crappy excuses they give (but it is overpriced and evidently T3 patients are deemed not worthy according to my EX Endo).

Completely agree about the "risk of hyperthyroidism over-exaggerated" - When they were messing me around I was told and I quote "Too much T4 is bad for the heart, but if the dose is too low, then we will give you the higher dose anyway" which to me, completely contradicts the T4 theory.

At the end of the day, it is safe to say, we all strive for quality of life. I strongly advise you seek a second opinion. One pill does not suit all and only we know how we feel and not the professionals or the textbooks/studies they refer to!

Take care and let us know how you get on with the second opinion :)

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Andy. If this is central hypothyroism then it is primarily a pituaritary problem. You might find you get a better service from an endo who works at what is known as a pituaritary center of excellence and the pituaritary foundation should be able to point you in the right direction for this.They have a nurse run help line. I havebeen convinced for quite a while that the T4 is thebest indicator of thyroid well being and if it is in thelower half of the range people are symptomatic. I presume you are still symptomatic hence the concern for better medical help. Have you taken your pulse recently and temperature?

It seems that you mumis hypothyroid but I think unlikely to be diagnosed central as TSH too high. It is supposed to get stuck at very low. You both might have some resistance to thyroid hormone but your iron is too low and lack of it will inhibit absorbtion. I presume I am talking to a man so wondering why iron so low.Have you been hypo and untreated for many years this might explain. Take some ferrous sulphate for a few weeks and see if that improves your absorbtion of levo.

Andyb1205 profile image
Andyb1205 in reply to Hidden

I live in Canada so my best luck is to hunt around for a GP, I have one in mind and will see him soon. I'm in the waiting list to see an excellent endocrinologist (for starters he prescribes T3 and listens to symptoms) but that will take months.

Also, recent scientific consensus rather suggests that in central hypothyroidism, the TSH can be low, normal, or even slightly elevated. But that secreted TSH does not have full biological activity so fails to properly stimulate the production of thyroid hormones.

My body gets cold easily, one amongst many lingering symptoms. Yes I'm a man and I'm not too sure why my iron is like that though it is in range. My Ferritin was 180a bit over a year ago and has been steadily falling, though it is now at 91, up from 75 three months ago. I doubt my GP will prescribe me iron but I could try taking something over the counter. I'm not eating that well these days though to be honest.

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Hidden in reply to Andyb1205

Thank you.Thats really helpful toknow aboutcentral hypothyroidism with TSH. Might be a possible option for my child who I am trying to get treated. Defo worth getting some over the counter iron for a bit.

Andyb1205 profile image
Andyb1205 in reply to Hidden

Along with the article I posted above, which shows that FT4 in the low-normal range can have symptoms similar to below the range, here’s a really good recent extensive one on Central Hypothyroidism published just last year.


Best of luck with your kid! What doctors don’t seem to understand is that even mild to moderate symptoms of CH can greatly impact quality of life.

Thanks for posting this link Andy - it came up when I did a search for Central Hypothyroidism and has helped my understanding - much appreciated!

Andyb1205 profile image
Andyb1205 in reply to Hidden

Hey mandyjane. Both my mother and brother take 300mg Ferrous Fumarate which is 100mg elemental iron. I’ve never had a deficiency like them but do you think it’s safe to take that high dose prescription for a week or two? I know it’s not safe to overload on iron and it would build up quick. I’d switch over to a regular iron supplement for another couple weeks if needed.

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Hidden in reply to Andyb1205

I would go for a week then ferrous sulphate for about a month then a blood check.

Andyb1205 profile image
Andyb1205 in reply to Hidden

Sounds like a plan. Thanks.

I still need to get the second opinion from this other GP, has been difficult waking up early enough.

I was able to contact a doctor involved in the IGSF1 project, the recently discovered most common cause of isolated CH. I was puzzled that he suggested I do not have hypothyroidism because my lab values are good, especially as the literature on CH and IGSF1 suggest that FT4 can be low-normal. Will contact his colleague for another opinion.

It is so hard to find a doctor willing to properly titrate without a firm diagnosis, with a suspected idiopathic cause and doubts over if I self-medicated unnecessarily. There’s a genetic panel test for CH but it costs $1200!

Trying to understand what’s been going on myself has been difficult. Life long symptoms of hypotonia, mild hypogonadism, subpar metabolism resulting in being skinny fat. One can say mild symptoms of CH. And then the turning point a decade ago towards worsening symptoms. I was 145lbs skinny fat, 5”10’, very little muscle mass and remove the excess fat and I’d be underweight. And then weight gain of 70 pounds over 8 months with no lifestyle change and doing physical labour work, worsening muscle weakness and hypothyroid symptoms.

Then self medication with NDT, regained my confidence coming down to a healthier weight. Self doubts led to being manipulated to go off it, 40 pounds gained and return of hypo symptoms. Then on Synthroid, titration taking way too long with improvement of symptoms but still stuck half way where I am now!

The search for answers has been stressful to say the least. I just want my life back or at least a resemblance of some normalcy.

Good to know it wasn’t all in my head that the Zoloft 25mg had made me more hypo.

So I was on 112mcg a month ago and In the past 4 weeks I self dosed, 137mcg for a week then 125mcg for 3 weeks. Recent labs.

TSH 0.18 (0.32-5.04) down from 0.22

FT4 14.2 (10.6-19.7) down from 14.5

FT3 3.86 (3.00-5.90) down from 4.01

My numbers would’ve been even lower if I stayed on the 112mcg.

Tomorrow I will finally see this GP who is my last hope right now, at least until I see the Endo in 4-5 months. Hoping to at least officially get the 125mcg dose. I wish I could show him the new labs with the self dosing but probably not wise. Wish me luck.

I like this study a lot, as I am also a child-onset hypo with low-normal FT4, normal TSH, moderately symptomatic. No diagnosis though. And no idea what's caused it. 12 yr old sister presents exactly the same.

I do relate to your story a lot. It is frustrating there are many of us out here with labs like this going completely ignored. I feel so out of my depth with it and have absolutely nowhere to turn. I suppose there is the assumption that low-normal labs can only be 'mild' but in reality my body is deteriorating.

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