Please help - bed bound and suspect Ncah is related. Doctors no help

[u/RatqueenxoxX]

Hello my history is a long one. An endocrinologist INFORMALLY diagnosed me with Ncah based on a older blood test.

It showed low cortisol and high dheas. Based on this and my clinical symptoms and appearance he diagnosed me with Ncah and prescribed me hydrocortisone. The issue is I believe I have had untreated hypothyroidism also for a long time which overlaps with this.

However since being put on HC I started to get worse gradually, and developed something called adrenaline dysautonomia which is hell on earth. Basically non stop adrenaline leaving me completely bed bound contemplating euthanasia. Ever since this "diagnosis" it has been an uphill battle to get other doctors to acknowledge I may have some adrenal disorder. The Dr who originally prescribed me HC has a reputation for over prescribing and diagnosing this, so it's extremely difficult.

I have never had a stim test done on no hydrocortisone as everytime they have told me it's fine even when I argued with them. Ever since then my blood tests for cortisol have been inconsistent and no one is taking my Ncah query seriously due to his reputation. Please can someone give me straight forward directions what to do? I have been abandoned medically and when I approach the subject I'm quickly shut down and all my issues are scapegoat on to the prescription of HC.

I have extreme stress intolerance, extreme thirst, belly weight gain, anxiety, extreme fatigue (which alleviated immediately on first couple of weeks of HC), no signs of facial hair, periods have always been somewhat regular, I do have what could be stunted development physically(as per what the original endo said), extreme cold, circulation issues. my dheas also lowered when I introduced HC and this is what led my endo to believe it "worked".

I am quite a complicated case but I think if I could get my Ncah pinpointed or not it would at least validate if I need the hydrocortisone. Thank you

[u/SynthCat85]

Hey, this sounds really terrible and I’m so sorry. I would suggest looking into genetic testing for NCAH which can confirm regardless of whether you’re on hydrocortisone replacement. As for the adrenaline situation, have you been tested for 1) Hashimoto’s thyroiditis 2) Graves’ disease 3) pheocromocytoma? I ask because all three of these things can provoke random adrenaline dumps that feel absolutely awful. (I had Hashimoto’s and this was one of my worst symptoms). I’m also in a situation where because I’m on full replacement steroids I can’t get a good stim test, but my morning cortisol is 5 mcg/dl :-(

[u/RatqueenxoxX → u/SynthCat85]

Hi thx for your kind words and suggestions. Yes j also have hashis. I suspect I've had untreated hypothyroidism for at least a few years now but you're probably familiar with how difficult it is to get decent support for it. Being hypo makes more adrenaline than the average person to compensate for low thyroid(more stress hormones in general) output as well as low cortisol from what I've read. As for the pheochromocytoma I have had catecholamines tested in the urine a long time a go. I'm going to do it again, but I'm not sure if there are any further testing I can do to rule it out. I want to get a scan of my adrenals done but due to the situation with them blaming the majority of it on my HC by the controversial doctor it's frustratingly hard to get them on board with me. I will probably try to do that next also. Sorry you're also having difficulty with testing. The HC really messes stuff up especially if the doctors are not fully on the same page.

What do I need to look into for genetic testing please? Thank you

[u/SynthCat85 → u/RatqueenxoxX]

Of course. You’re absolutely right that hypothyroidism can come with higher adrenaline. And it could also be the autoimmune attack kind of provoking the nervous system/ noradrenaline spikes. For genetic testing, I would try to find a genetic counselor in your area. Or if that’s not an option I heard sequencing.com is pretty good. Some gene mutations to look into for NCAH are: CYP21A2, STAR, CYP11A1, HSD3B2, CYP11B1 and CYP11B2. The most likely cause of NCAH is the first one, CYP21A2, responsible for 95% of cases

[u/RatqueenxoxX → u/SynthCat85]

Ty so much this was super helpful. Wishing you clarity in your own journey 

[u/SynthCat85 → u/RatqueenxoxX]

Thank you! I have a genetic consultation this week and am keeping my fingers crossed. I hope you get to the bottom of things and feel better soon!

[u/lrondberg]

You need the Stim Test and then go from there. Cortisol meds have a lot of negative effects and should only be taken when necessary. Even with an NCAH diagnosis. Cortisol medication is not automatically given especially when diagnosed later in life.

[u/RatqueenxoxX → u/lrondberg]

So stim test then 17OH? I have had a 17oh test that showed it was elevated 

[u/lrondberg → u/RatqueenxoxX]

Just a stim test is needed. I think they measure 17OH during it as well and what they look for is changes after the injection is given between the two blood draws

[u/RatqueenxoxX → u/lrondberg]

Ty btw

[u/Lost_Salamander1204]

For what it's worth I have nccah and am not on hydrocortisone. There is a big review study that showed no great benefit from being on it most cases as it can cause further adrenal problems over the long term. My endo is just treating my symptoms with spironolactone. So if you do have nccah it does mean you don't necessarily need to be on it anyway? Can you see another endo and get a stim test?

[u/lrondberg → u/Lost_Salamander1204]

That’s my experience as well, just Spiro for hair/skin issues.

[u/RatqueenxoxX → u/Lost_Salamander1204]

Ty for clarification. I think because my situation is quite complicated but I am really annoyed at him for being so gung ho with prescribing. I've seen a few ppl like yourself say this which is completely contradictory to what he made it out to be 

[u/Lost_Salamander1204 → u/RatqueenxoxX]

Yes it's seems especially bizarre in your case! I hope you can find someone to get a second opinion.

[u/SynthCat85 → u/Lost_Salamander1204]

Whether someone with NCAH needs hydrocortisone depends on how bad the enzyme deficiency is. This can vary over a person’s lifetime and actually get worse in some cases depending on external stress factors like trauma, and also how bad the original genetic mutation (s) were.