Female With CAH - Anyone Know About This

[Iron Man]

https://rarediseases.org/rare-diseases/congenital-adrenal-hyperplasia/

I know a female that appears to have this "condition". All signs are pointing to it and there is possibly an Ehlers Danloss component as well.

She is going to visit an Endochrinologist as soon as she can.

Weight gain, extreme exhaustion and facial hair are some real issues that she faces.

Does anyone know about this "condition"? I have heard of people being put on Pharmaceutical drugs to combat things, but they say these drugs is likely to make the weight gain worse?

Sorry to post in the Female section, but I was not sure where else to place this.

Thanks.

 

[Iron Man]

@haidut - Do you know anything about this disease? Seems very rare and not many people know about it...

 

[ecstatichamster]

I suspect without any justification that Rsy would recommend thyroid, progesterone and pregnenolone.

 

[Iron Man]

I suspect without any justification that Rsy would recommend thyroid, progesterone and pregnenolone.

Thanks!
Does anyone else have thoughts on this?

 

[Iron Man]

Thanks!
Does anyone else have thoughts on this?

BUMP

 

[Emstar1892]

We studied this condition during my philosophy degree (there's a debate at the moment as to whether the root cause is always exposure to high levels of testosterone in the womb, and whether this makes CAH a 'disorder' worth 'correcting' or should be regarded almost like a gender category of its own). Females with CAH present with it from birth/puberty onset usually - you sure that your friend is only just getting signs of it now? Her symptoms also sound like PCOS. The weight gain often gets worse from the medication because the females with CAH already have high androgen levels, and are then given steroids to prevent the weakness/fatigue/hypotension, etc

 

[Iron Man]

We are pretty sure that she has CAH. Her brother has the salt losing type. It seems that she has had the symptoms for years, but wish hitting 40 the symptoms have seemed to amped up a lot more.
Interesting about the testosterone... I would believe this.

 

[DaveFoster]

I suspect without any justification that Rsy would recommend thyroid, progesterone and pregnenolone.

Thanks!
Does anyone else have thoughts on this?

And calcium, vitamin D, and maybe vitamin A. Peat's seen most issues clear up with those six components.

 

[Iron Man]

I wanted to bump this old thread...
The woman I know ended up seeing a Doc and then a Specialist and she is on steroids (cortisone acetate) now to sort out the imbalance.
One of the biggest issues in all of this is her inability to lose weight. She eats in a very regimented way and cannot seem to budge her weight.
This condition seems to be quite rare and when I look at websites, people seem to be still trying to work it all out.
So... Does anyone here have any ideas or suggestions on what is the best diet? Not just to lose the excess weight, but a diet that will be good long term and maybe help counteract the artificial cortisol.

 

[Iron Man]

This seems to be a tough condition to have and hardly anyone knows anything about it... @haidut Do you have any ideas?

 

[Iron Man]

Bump?

 

[saene]

CAH is a tricky condition, may be worth asking Dr Peat directly. In my limited understanding, usually it is caused by absence or decrease in the enzyme activity of 21 hydroxylase which converts 17 hydroxyprogesterone to other compounds which ultimately form stress steroids (cortisol). Since the enzyme is not working correctly adding progesterone or pregnenolone might make the situation worse, as those compounds build up they are shunted down an androgen producing pathway which can aromatize to estrogens. It is thought that people with CAH don’t make enough stress steroids, so that is usually part of the treatment but I would say use the least amount you can. Thyroid hormone and strict avoidance of PUFA may help. Hope that helps, good luck!

 

[Iron Man]

Thanks @saene
How does someone contact Ray Peat? I was hoping someone like @haidut might chime in too. CAH seems to be one of those conditions that very few people know about.

 

[Tiffany]

.... those compounds build up they are shunted down an androgen producing pathway which can aromatize to estrogens. It is thought that people with CAH don’t make enough stress steroids, so that is usually part of the treatment but I would say use the least amount you can. Thyroid hormone and strict avoidance of PUFA may help. Hope that helps, good luck!

I just found out I am a carrier for this condition and "May exhibit symptoms of non-classic congenital adrenal hyperplasia"

Is the subject of the above quote perhaps the reason why I have uncontrollable migraines and get spider veins when I take progesterone? Recently my Dr prescried 200mg progesterone suppository for fertility. I absorbed maybe half of it, if that, yet was so sick (major migraine) and super dizzy.

I started 5mg DHEA daily in June because my testosterone was low. DHEA relieved migraines/photophobia, to a degree and allowed me to work on computer a few hours a day and be comfortable. Then, I had hair thinning and PCOS symptoms. I had high FSH and LH (I think this was related to DHEA, but am not positive), "fluffy" face (lots of longer, fine facial hair and several more coarse hairs, but not like whiskers), missed periods (and??? I forget). Adding in estriol (for fertility, to drive down FSH and LH) caused serious exhaustion. The first few days on estriol I had no migraines and even sat in the sunlight for a while. It was fantastic, but short-lived.

Can anyone suggest more than thyroid replacement? I already take Vitamin E and A. I stopped taking D for fear it would deplete magnesium and icrease migraines. I haven't been in the sun in over a year, so I probably need some D.

Some odd things about my migraines are that they can be paused by yawning and eating. If they are not yet severe, yawning (real, organic yawning, I can't just force it) or eating can cause the pain to go away for a while (minutes). I seem to have to eat a significant amount to get the relief. Otherwise, I'd just chew gum or eat tiny snacks all day long to keep migraines away.

Based on the relief from swallowing food, I suspect GABA has a role in relieving my migraine pain but don't understand physiology well enough to figure this out. Gaba seems to be related to yawning as well. Does anyone here see a connection that they could explain? I would very much appreciate knowledge if it can help me leave migraines in my past.

BTW, What about epigenetics? Shouldn't being happy be enough to keep our genetic tendencies out of the picture? Meditation is a huge game changer for me, I just get in the downward spiral of misery with migraine and it feels like I forget how to meditate. I have had them so often and for so long that when they go away, I usually feel obligated to get my work done rather than meditate. This is probably not wise.

Help?