CAH - Mystery Solved

[Andromeda]

Hi Folks,

You might remember I've been posting in here since July 2006 trying to find the cause of my low libido, poor energy, and gynecomastia. Well it looks like I've finally figured it out, and I'm so glad I kept pursuing the matter because right now im living normally - I know what it means to be relaxed for a change.

Recently I got a referral to a good endocrinologist (for a change) who on noting my various appearance features, acne on forearms, back, chest, and gynecomastia, had the good sense to test me for Congenital Adrenal Hyperplasia (CAH) A description of which can be found here:
http://www.aafp.org/afp/990301ap/1190.html

It seems I have the rarer form of this already rare condition and so I want to tell you guys what symptoms I had so that any of you with the same or similar symptoms who like me have been banging your heads against a brick wall for years trying to figure it out, can actually do something about it.

Basically your pituitary overproduces ACTH in a neverending attempt to make your adrenals pump out the most basic and essential hormone of life - Cortisol. Due to an enzyme deficiency that you inheret from your parents your adrenals can't produce the cortisol properly, but they produce everything else such as Progesterone, DHEA and Testosterone in excessive amounts.

In my case the Progesterone and Testosterone were rising to extremely high levels causing breast development (gynecomastia) after the T aromatised to E. I've always been a person thats very good in coping with stress, but Ive always sensed that it was a bigger effort for me than others - and sure enough I can cope with anything now that I've got decent cortisol levels. Particularly physical stresses such as gym.

Just one point I would like to make here - Even with this problem, and all the symptoms of adrenal fatigue, my blood tests and even now a 24Hr Urinary Cortisol test all show my cortisol levels as being fine, and in fact up in the high levels of the reference range. Furthermore, my DHEA levels and Progesterone levels, while high, were not much off the end of the reference range. So, if you have symptoms of adrenal fatigue, gynecomastia tendencies, and acne, dont just settle on blood or salivary tests of the end hormones - have the proper CAH test where they measure the two enzymes - Deoxycortisol and 17 Hydroxyprogesterone... It could be you have this rare problem which is easily solved with dirt cheap intake of Prednisone or Hydrocortisone...

A couple of they key things I've learnt from the Dr diagnosing this condition is that:
(1) Blood tests for Cortisol at least, are shit and you should not put complete faith in them.
(2) Urine tests are as bad if not worse

Regards,

[Axl]

GLad to hear you got the answer that solved your problem! Thanks for the very informative post!

[zkt]

Interesting- glad you got it resolved.
So you had, in essence, Addisons, with excess levels of T, E2 and andosterone ?
Whaat were your Sx?
I take it then that the only reliable cortisol test in your book is salivary?
I had seen that link befor when studing the metabolic pathways of glucocorticoid synthesis. Good read for anyone wanting to really understand this stuff.

[PainIsGrowth]

Hey Man,
Just wondering if you had pretty bad E.D. with the low libido? I have those symptoms, without the gynecomastia, i dont think. I work out a lot, so my chest kinda big, but not like the wikipedia picture? Was your gyno very drastic, or could it have been slightly masked if you worked out a lot? Thanks for posting this great story.

[HeadDoc]

Bump to keep the thread alive. We don't get much of this rare stuff.

[Andromeda]

Originally Posted by zkt

Interesting- glad you got it resolved.
So you had, in essence, Addisons, with excess levels of T, E2 and andosterone ?
Whaat were your Sx?
I take it then that the only reliable cortisol test in your book is salivary?
I had seen that link befor when studing the metabolic pathways of glucocorticoid synthesis. Good read for anyone wanting to really understand this stuff.

In hindsight, it was only the salivary tests for not just Cortisol, but also Progesterone and DHEA that seemed to truly reflect my state. I recall one of my past treating Dr's saying salivary tests give a better idea of what the hormone levels are like at a cellular level. He was the Dr that did'nt know I had CAH, but did suspect adrenal fatigue, and first got me on HC

My salivary results showed cortisol in the very low end of the acceptable range, and dropping a little below it at the late afternoon marker. While DHEA and P4 were right at the very top of the ref ranges.

Regards

[HeadDoc]

I believe that Dr. Mariano, who used to visit us, recommended 4 saliva samples per day for assessing adrenal problems. Some of his current clients are around and can probably add to this discussion.

[zkt]

Yes, that seems tp be the gold standrd. It would be interesting to see how well that coorelatres to a 24 hr urine.

[zkt]

Yes, that seems tp be the gold standrd. It would be interesting to see how well that coorelatres to a 24 hr urine.

[fbcoach]

Andromeda,
Great to hear Couple of questions if you don't mind:
1) How long before you noticed results with hydrocortisone?
2) How much are you taking?
3) Have you noticed any side-effects?
4) Has it increased your apetite?

I am on 25mgs/day. I have noticed a difference, but still not quite there yet. I am a little leery about increasing my dose. My saliva tests showed my corisol below the range on all 4 tests. Anyway, thanks for any info and CONGRATULATIONS!!

[Cryptochid]

Propably worth having a look at GH levels with CAH.
Hope you have plans for the gyno job. I did, great results