Advice on Brother - Endocrinology Related

[Andyb1205]

Hi, I wanted to get your thoughts on my brother's labs and symptoms, he's a young 17 year old. I didn't know where else to post this. It has been frustrating trying to figure out what is going on with his health which is slowly getting worse. He will be seeing his endocrinologist in a couple weeks though I fear he may be useless, will also be seeing a gastroenterologist this summer. This other endocrinologist had suggested that his problems are not endocrine related but rather he should see a neurologist to investigate neuromuscular disorders.

Symptoms:

- sweating, mostly feels hot though sometimes will be sensitive to the cold

- rapid weight gain despite diet and exercising, slowed metabolism

- dominating constipation though occasional normal stools

- stomach and pelvic pain

- hypotonia according to physiotherapist, weaker than peers both boys and girls

- carpal tunnel syndrome

- ***muscle weakness, in particular in neck, shoulder and spine

- gynocostamia and occasional breast pain; does have normal facial hair for age, along with body hair (thicker than me)

- large feet

- proportionally long legs and arms (his height is just under 5'6")

- x-ray showed mild lumbar scoliosis

- minor asthma, takes maintenance inhaler daily

- high cholesterol, risk for prediabetes

- supplementing iron and vitamin D deficiency

June 2017

Ferritin 20 (28-186)

Vitamin D 22 (75-150)

B12 200 (180-655)

TSH 1.79 (0.47-3.41)

FT4 12.2 (10.2-17.3)

Tissue Transglutaminase <0.5 (<0.12)

*began iron and Vitamin D supplements

March 2018

*Muscle Enzymes 436 (<165)

CRP 0.9 (<4.8)

April 2018

Muscle Enzymes 137 (<165)

*Occult Blood 209 (<50)

DHEA Sulphate 7.2 (<15.0)

*LH 6.8 (0.8-4.9)

FSH 7.6 (0.5-10.0)

*Prolactin 6.1 (4.6-21.0)

*IGF1 549 (109-488)

Estradiol 83 (<182)

Testosterone 12.6 (8.4-28.8)

TSH 1.12 (0.47-3.41) FT4 14.7 (10.2-17.3) FT3 4.76 (2.86-6.79)

TPOab 32 (<35)

Ferritin 118 (28-186)

Vitamin D 101 (75-150) was on 50,000IU/week, upped to 70,000IU/week

*Glucose Fasting 5.8 (3.3-5.5)

Glucose 2hr Tolerance 6.0 (3.3-7.7)

May 2018

TSH 1.42 (0.47-3.41) FT4 13.7 (10.2-17.3)

Testosterone retested 9.9 (8.4-28.8)

Free Testosterone 278 (115-577)

SHBG 15.5 (10.0-70.0)

ECG required follow-up. Echocardiogram results: normal, minor palpitations

Summary: main abnormalities are elevated IGF1, elevated LH, low-normal testosterone, malabsorption, occult blood elevated with referral to gastroenterologist.

Thyroid function fine but I have my suspicions given the best of three results coincided with TPOab 32 (<35), curious if it was elevated in the other two results and its significance. Barely in range B12 last year, will request repeat B12 with homocysteine and methylmalonic acid urine test.

Curious about relevance of LH and possible primary hypogonadism though an endocrinologist dismissed it. I've read that mildly high IGF1 can be linked to diabetes or hypothyroidism, interested in ruling out possible acromegaly.

I would greatly appreciate any input. He is a smart young man but I am worried about his health. His teachers are also concerned since it is greatly affecting his mental health and well-being.

[gabkad]

Your brother needs endoscopy with biopsy. Probably also colonscopy if he's got blood in his stool. Could be coeliac because that causes malabsorption of minerals and vitamins and has neurological complications. There is cerebellar ataxia from coeliac as well so needs to be diagnosed ASAP because this is irreversible.

[Andyb1205 in reply to gabkad]

Thanks! Will push the gastroenterologist for a thorough evaluation, he will see him in a month.

He did test negative for tissue transglutaminase both a year ago and a month ago, possibly ruling out celiac. He also is gaining rather than losing weight.

He definitely has something going on with his digestion but I think it exists alongside metabolic problems.

[gabkad in reply to Andyb1205]

Coeliac is weird. Antibodies can test negative or low. The only definitive test is the biopsy. Coeliac can cause constipation or diarrhoea. It can result weight loss or weight gain. If your brother is eating a lot of easily digestible carbohydrates (sugar), then that could explain weight gain. There's no one size fits all with this thing. Symptoms can come and go. They get worse when a person is under stress. But it of course might be something entirely different going on. Good thing he's going to see the enterologist.

Occult blood can be from anything including haemorrhoids. If he gets constipated, then that's a possibility.

Liver enzymes were not tested. The gastro will need to do them. Prediabetes and fatty liver go hand in hand.

He's 17 years old. You can't possibly keep track of everything he's eating especially if he's got spending money. Must say though, most boys are bottomless pits and it doesn't show how much they eat.

[Andyb1205 in reply to gabkad]

He does have hemorrhoids. His diet isn’t good these days but he gave up after failing to lose weight. For six months he was getting regular cardio, he was in a weight lifting class, had a decent diet but wasn’t losing much instead was gaining a bit. The poor kid.

He did have his liver tested. He might have developed a fatty liver recently.

June 2017 ALT 11 (<50)

March 2018 ALT *48 (<50)

His elevated LH is also suspicious, with high-normal FSH and low-normal testosterone. I hope it’s not overlooked because of the one shoe fits all approach. The only symptoms he’d have with primary hypogonadism is gynecomastia and muscle weakness. But not everyone has all the symptoms. He has pain even if you tap him on the arm or shoulder or back, not normal for his age at all.

[Andyb1205 in reply to gabkad]

Hey gabkad, thought I'd mention. So my brother was booked for a flexible sigmoidscopy next month, I had never heard of that.

[gabkad in reply to Andyb1205]

Had one done in 2015. I watched on the monitor. I found it to be 'no big deal'. Never had endoscopy though.

[shaws]

They've missed out on the most important test, i.e. Free T3. The fact your your brother's FT4 is so low, I doubt he has sufficient T3 (liothyronine) circulating in his body and this can lead to many symptoms.

I know a doctor who mentioned ADHD etc. could be caused by a thyroid hormone problem.

thyroiduk.org/tuk/testing/i...

thyroiduk.org/tuk/about_the...

If your brother hasn't had thyroid antibodies tested, he should get a test and be given levothyroxine on the fact of risen antibody levels.

[Andyb1205 in reply to shaws]

He has had his Free T3 and TPOab tested once. Two other times he had just the TSH and FT4. I noted the results in the post.

[Andyb1205 in reply to Andyb1205]

Thanks for helping me recheck this shaws. Brain fog made me miss this! Looking back at my brother's results:

June 2017

TSH 1.79 (0.47-3.41)

FT4 12.2 (10.2-17.3)

Ferritin 20 (28-186)

April 2018

TSH 1.12 (0.47-3.41)

FT4 14.7 (10.2-17.3)

FT3 4.76 (2.86-6.79)

TPOab 32 (<35)

May 2018

TSH 1.42 (0.47-3.41)

FT4 13.7 (10.2-17.3)

I had assumed the low-normal FT4 from a year ago was possibly due to iron deficiency, since a recent article posted on here had mentioned how it can reduce FT4/FT3.

nature.com/articles/s41598-...

But through skimming I completely missed the part about how TSH remained unaffected!

Since the best out of three results for my brother (FT4 near top third, FT3 at middle) showed just in range TPOab 32 (<35) it is possible that antibodies would be raised on a different day!

My brother may very well have a narrow individual set point:

TSH 1.79 FT4 28%

TSH 1.42 FT4 49%

TSH 1.12 FT4 63%

I will get him retested this month and include both TPOab and TGab.

I also need to convince my stubborn mother to get a full thyroid function test as well to get a better picture. Interestingly she also has Vitamin D and Iron deficiency, takes supplements and is having far more trouble absorbing them to raise the levels than my brother. She also had barely in range B12.

[shaws]

This was posted by another member - you can ignore the 'selling':-

autoimmunesecrets.com/episo...

[knitwitty]

I just wanted to reply to your post with a comment about my son's experiences. He was diagnosed with coeliac disease just over a year ago. He didn't present with weight loss in fact he gained a little weight despite having severe diarrhoea. He was unable to go out and didn't do a lot of exercise. One of the blood tests his doctor requested showed very high liver enzymes and his doctor thought at the time he might have a fatty liver and because of the results, he was going to suggest a follow up with a liver specialist, however following a bit of research ( with help from a friend who is a GP) we discovered that high liver enzymes can be a direct result of undiagnosed, untreated coeliac disease. We had the devils own job convincing the registrar at the hospital following his endoscopy that this was the case but it was referred to as a sign of coeliac disease in the follow up letter to his GP so the registrar must have checked later.

At the time I also suspected that my son might have thyroid problems but when his TSH and FT4 was tested they came back in the normal range, although to my untrained eye they did not really appear normal for a lad of 19/20. My son is going to have a full private blood screen for Thyroid problems when he comes back home from Uni this week as he still has quite a few symptoms of hypothyroidism but his consultant and GP have said his results from a year ago fell within the "normal" range and they won't retest him.

TSH was 3+

FT4 was about 12

I don't have the exact numbers to hand.

I am having these done to either rule out thyroid problems completely or to have some ammunition to take back to the GP.

I just wanted to say inform yourself as much as possible, this forum is a fantastic place to come and ask questions. Take notes with you, containing points you want to raise if you accompany your brother to his appointments, don't give up and keep asking questions until you get satisfactory answers and your brother starts to feel better.

Being a teenager is not easy these days even more so if you have health worries, we were fobbed off for years before my son got his diagnosis for coeliac disease so stick with it, your brother will be glad of your support even if he won't admit it to you.

Good luck!

[Andyb1205 in reply to knitwitty]

Thanks knitwitty, I hope your son's health has been improving since being diagnosed with celiac disease. Having to adopt a strict gluten-free diet can be a life changer, I can't imagine how living with that would be like.

I mentioned in my post in my reply to shaws, but my mother also is supplementing for Vitamin D and iron deficiency. She has had much trouble bringing those numbers up despite supplementing for two years now. The iron has finally been approaching mid of range while she has had bad luck with the Vitamin D despite taking large doses (50,000 a week!). Her B12 is also barely in range. Definitely they both share something in common that causing the malabsorption. Myself, my Ferritin has been fine and in the triple digits for years, haven't been eating well recently but even then it dropped to only 75. Unsure about B12 because of supplement interference, will retest soon, but I was discovered to have Vitamin D deficiency 2 years ago.

Also my brother was actually booked to have a flexible sigmoidscopy next month. I had to look that up since I've only heard of colonoscopies and endoscopies. The family doctor had given him the referral after personally checking him for hemorrhoids but we just got booked straight for the sigmoidscopy. I will address my concerns to the gastroenterologist at that time about checking for celiac disease and bowel diseases.

I do wish you and your son the best of luck in figuring out what else is going on, especially with the thyroid! I was reading recent scientific work on the subject of variations in individual set points and how very narrow individual ranges can be passed down genetically in families. It is a shame that medical practice is far behind the science.

[Andyb1205]

Just an update. The endocrinologist said he doesn’t have an explanation for my brother’s slightly elevated IGF-1. We got some labs to retest IGF-1, along with GH, but most importantly my brother will get tested for Klinefelters, specifically, mosaic Klinefelters/mild Hypogonadism. His LH was bit elevated, FSH high-normal, testosterone low-normal. Looking forward to the results for the karotype test.

I was able to get my mother to do a full thyroid function test which was interesting. Done in the morning with fasting.

TSH 2.28 (0.32 - 5.04)

FT4 12.5 (10.6 - 19.7)

FT3 4.07 (3.00 - 5.90)

TPOab 16 (< 35)

She has previously only had the TSH checked:

May 2014 TSH 1.93 (0.30 - 5.30)

Feb 2015 TSH 2.59 (0.30 - 5.30)

Sept 2015 TSH 2.00 0.27 - 4.20)

Nov 2016 TSH 3.54 (0.32 - 5.04)

May 2017 TSH 3.82 (0.32 - 5.04)

June 2018 TSH 2.28 (0.32 - 5.04)

I was hoping to find elevated antibodies.

Her results are rather similar to mine. My TPOab has fluctuated between 12-18 (< 35) over the years, TGab in range, ultrasound normal. By inference her TGab may also be normal, along with the ultrasound.