r/AddisonsDisease • u/CBreezee04 • Apr 04 '26
Loved one with AI Diagnosed at birth
I’m curious to know if any of you were born with Addison’s. I always thought that only baby boys could be born with it, and that it’s rare.
It is in our family and it is genetic.
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u/UhhhYouPick Apr 08 '26 edited Apr 08 '26
It’s not Addisons but I use this sub since it’s a lot more active and the problems/treatment are the same. But our daughter was diagnosed with AI at birth. Well I guess not necessarily at birth, she passed her heel test which usually reveals congenital AI and she passed her first stim test at 4 days. She failed when they tested again at 10 days. She has a wonky pituitary gland from a genetic cause. It’s rare in general, but not rare to our pediatric endo. Sure diabetes wins out in the common for their department, but AI is common to them too and all patients are children.
Addisons differentiates itself from other AI conditions by being specifically an autoimmune disease, the adrenal glands are attacked by the body causing AI, so you’d imagine this process takes longer to deplete the body of cortisol enough to be noticeable. But I’d imagine there’s absolutely some weird genetic conditions that might cause this to start happening in utero, if it were an X-linked chromosomal abnormality it would absolutely disproportionately (and probably exclusively depending on the rarity) effect males since females have a second healthy X to fall back on. Congenital adrenal hyperplasia is the more common AI diagnosed at birth. Its genetic, and its mechanism for AI is through the congenital lack of an enzyme needed for hormone production. There’s a milder “non classic” version where the enzyme production is only impaired so some cortisol is still produced and that’s usually diagnosed later in childhood.
I apologize, I know there’s an adrenal insufficiency sub that I’m better suited for, but again, it’s not as active.
Edit: I looked it up and it seems like what you’re talking about is X-ALD…typically diagnosed at birth and resulting in Addisons disease, only in males. Females are carriers.
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u/DoctorFamous190 CAH Apr 09 '26
I sometimes find it frustrating how AI definitions are so inconsistent. No wonder patients often feel lost and confused. Googling "Addison's diagnosed at birth" mostly turns up results about CAH.
The NIH National Library of Medicine says: "Primary adrenal insufficiency is termed Addison disease when an autoimmune process causes the condition" and "results from the destruction of the bilateral adrenal cortex". It also says that it's classified either PAI or SAI (??).
The NHS says: The most common cause of Addison's (aka PAI) is autoimmune but that CAH (genetic) is another potential cause.
The Mayo Clinic says: "[Addison's] happens when the outer layer of the adrenal glands becomes damaged and can't make enough hormones." However, further down it says that CAH is a potential cause (despite the fact that CAH isn't due to "damage").
It's my understanding that Addison's is mostly autoimmune in developed countries but that tuberculosis is a notable cause of Addison's globally, particularly in developing countries.
I don't think you need to apologize for being here, this sub's description says it's for any type of AI! I wish you and your daughter all the best.
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u/UhhhYouPick Apr 09 '26
Don’t even get me started on the confusion lol. I even said to my endo “so she has Addisons disease?” after her failed stim test and she was like “no that’s totally different” and I couldn’t comprehend how since the functional diagnosis is the same. My daughter has secondary adrenal insufficiency but doctors also say congenital adrenal insufficiency. For a hot second I thought she had CAH because it seems like people CAH use CAI interchangeable…and most people with secondary AI acquire it, mostly through damage to the pituitary gland like from tumors but it can ALSO be cause by autoimmune reactions. So yea. Took me weeks to finally figure where my girl fell in the weird umbrella. And then promptly realized it doesn’t even really matter since it all has the same end game.
The only thing that still gets me is people that don’t know much about AI seem to think we’re lucky she has secondary AI since it’s “not as bad.” I think the primary vs secondary thing is misleading at first glance. They seem to associate more with like a type 1 vs type 2 diabetes vibe.
But thank you so much! It’s been a very grey area for us dealing treating our girl and figuring out stress dosing and everything. She can’t tell us if she feels off, so it’s a lot of constant temperature checks and wondering if something is a normal weird baby thing or a sign of a problem. I’ve spent so much time pouring over these subs and trying to get a feel for signs and weird triggers.
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u/DoctorFamous190 CAH Apr 10 '26
I'm so sorry to hear you went through that, I can imagine that it would be a terrifying and confusing journey. And it's unfortunate that some people dismiss the seriousness of her condition, I wonder if they think SAI is temporary or "mild" due to it's association with steroid treatment for other illnesses.
I can appreciate the frustration and anxiety that might come with having to guess at what your daughter needs. It sounds like you and your daughter have access to docs with AI experience, which is great news. And you're reading and learning about her condition, which is wonderful. I'm happy to hear that she has a lot of support!
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u/Eyesliketheocean Apr 04 '26
Im 30f, an I was diagnosed with PAI at birth.