I knew it.

[kickaha]

Remember how my endocrinologist dismissed Addison's out of hand because I don't exhibit hyperpigmentation?

Pigmentation in all non-redheads is the production of eumelanin by melanocytes, triggered by the gene MC1R which is expressed in binding melanotropin to the melanocyte.

ACTH and melanotropin are both products of the proopiomelanocortin (POMC; 176830) gene.[1] Leftover ACTH can be broken down in the blood, and one of the pieces is free melanotropin, ready to bind to the MC1R,[2] which is why excessive ACTH in primary Addison's disease causes hyperpigmentation.[3]

BUT...

Redheads don't express eumelanin, but pheomelanin[4, 5, 6], which is NOT produced by the above chain, in fact, pheomelanin production is turned *off* by the triggering of eumelanin[6], and the MC1R receptor site in redheads is generally dead of any activity. [4][5] Therefore the presence of melanotropin won't activate the melanocytes. It's the whole reason we *ARE* redheads.

So excess ACTH *won't* cause hyperpigmentation in redheads.

Dipshit.




Great. I'm still doing homework for the slow ones. Twenty minutes with Google, skimming articles and putting the pieces together. It took me longer to write this.

Biblio:
1) http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155555
2) Nat. Genet. 11: 238, 1995
3) http://www.emedicine.com/DERM/topic761.htm
4) J. Inv. Derm. 117: 1314, 2001
5) Hum. Mol. Genet. 9: 2531, 2000
6) Barsh, G.S. (1996) The genetics of pigmentation: from fancy genes to complex traits. Trends Genet., 12, 299–305.

Comments

[morgyne.livejournal.com]

He's a doctor, duuuuh.

[kickaha.livejournal.com]

Well I'd hope that he'd at least keep up with the fricking *basics*, y'know?

Please God, just point me to a doctor who actually knows more than I do, because I can't write my own prescriptions. :P

[jinasphinx.livejournal.com]

Jesus. Just another example of how we have to work so damn hard to jolt them out of their stupid decision tree. I hope you can find a smart endo.

[kickaha.livejournal.com]

Thanks. I'll settle for a competent one.

[ginkgo.livejournal.com]

Indeed. I'm glad I sent you the article yesterday which kicked this off. Quite a good summary.

And we've found a backup guy in case he isn't better next time, which makes me happier. :)

[kickaha.livejournal.com]

Me too.

Thanks for the article hon. :) *smooch*

[ginkgo.livejournal.com]

You're welcome. :) Anything in the battle for intelligence over idiocy.

[tealynx.livejournal.com]

I, also a redhead, had no pigmentation. Though I wonder now if I had more feckles while I was sick... I seem to have fewer now. I also had what seemed to be normal electrolight levels, which my (now ex) GP told me ment that I didn't have any kind of adrenal condtion.

Oh, and FYI, given what I've seen on the addision's mailing list, at least a third (and possibly as much as 3/4th) of all endos are idiots. And even my good endo totally blew me off and was completely convinced I wasn't sick (it was all in my mind after all) until the timed stim test came back. Then it was all "well, of course you do seem to have it. I knew it all the time" on the phone.

In good news, the drugs are helping... mostly. *hugs*

[kickaha.livejournal.com]

Glad to hear the drugs are helping - any way of convincing a doc to listen, you think? :/

[ginkgo.livejournal.com]

Have you found a good mailing list? I'd love to know if you have. I've only come across a paper newsletter so far, but I've been focusing on the information to date.

[tealynx.livejournal.com]

Addisons_Disease@yahoogroups.com

Far and away the best online resource. Be forwarned though, huge number of post and lots of whinning, but the guy that wrote that great UK website on the topic (the one with the survey) moderates and responds a great deal. Lots of people posting test results and comiserating about the frustrations of endos.

And as far as getting docs to listen... no idea. Z reminded me that the progression you're currently in the middle of is almost exactly the progression I went though. It was incredibly frustrating, but since I'd had a bizzare stim test in the hosptial the endo eventually had to give me one in his office. It was a horrible experience, but it did happen. And 3 days later he calls me cell and says "well... um... I got your test results, and.. um..."

The trick now is finding the right balance/timing/dosages for all the meds. And now there's the theroy that with my system closer to stable I'm now loosing Magnesium, which would explain the really horrible 10 days or so I'm having a month with the wierd cramping...

The best thing the list has taught me is that life can be normal but that it's an adjustable system that needs to be well monitored. Overall though I'm feeling so much better I can't believe how horrible I felt for how long. :) Remember, there is hope. :)

Awesome

[ginkgo.livejournal.com]

I joined that list this morning and found the thread about AD friendly docs in Manhattan. Rock. I am going for the digest version, though. ;)

Thanks. :)

[hetaera15.livejournal.com]

God, if only your doc was more like the vets I've worked for...they're always like "Symptoms of Addison's(or Cushing's)? Do an ATCH stim right now!"
Or at least they were before the price of cortrosyn incresed about 500%.

[hetaera15.livejournal.com]

er, increased.
I totally can't impress you with my vast knowledge if I can't spell, heh.

[kickaha.livejournal.com]

*laugh* Ask ginkgo about my funny pronunciations sometime. (I grew up in Wenatchee. Warn't a lotta larned peoples thar. I guessed at how a lot of less common words were pronounced. Most I got right. Some I got waaaay wrong.)

[hetaera15.livejournal.com]

Thank goodness you don't say Warshington like my mom's new husband.
I'd have to hit you. ;)

[kickaha.livejournal.com]

Where's he from? I encounter the 'warsh' pronunciation on the East coast sometimes. My grandfather said it, and got it from his mom, who was from Western VA.

[hetaera15.livejournal.com]

I think he's lived around Arlington his whole life...at the very least, he's totally a western WA native.

[gwywnnydd.livejournal.com]

Honey, if he did that there'd be a *line* to hit him.

And only in places he wouldn't enjoy. ;)

[gwywnnydd.livejournal.com]

Can't help much with finding a decent endo, all the ones I've been sent to stare at me blankly until they realize I should be seeing a nephrologist, not an endo...

OTOH, I *can* commiserate with you on "Knowing more about your condition than the medical staff around you". BTDT all my life.
For some reason, doctors don't *like* being told "I know what's wrong with me and you don't." By a 10 year old.

[kickaha.livejournal.com]

Too true. Or a 35 year old, apparently. :P

[jason0x21.livejournal.com]

Research on Redheads is still rather new, we both know that from experience. Keep working the books and teaching the docs. Or find a redhead doc, like we did.

[kickaha.livejournal.com]

Oooh, good idea.

We had a fantastic redhead doctor in Chapel Hill. Man, she was hot.

[jason0x21.livejournal.com]

Sure she was a real redhead? I hear some women dye their hair red...

[ginkgo.livejournal.com]

Hot, pregnant, and freckled like a leopard. :0 Oh, my.

[babbleon1.livejournal.com]

I've been asking nurses I know whether our experiences were common, and three of four have now said, "patients have to manage their own care." Doctors are so busy they focus on the the easy answers to the exclusion of everything else.

[kickaha.livejournal.com]

Agreed. At which point you have to ask... what good are they, other than as a prescription writing machine? Seriously. I know precisely what tests I would like ordered, and they're the same tests I asked for six weeks ago. I just can't write the damned prescription to have them done.