Color Me Appalled

[louisev]

I went looking around the various internet support forums for CAH today and found a British group that I have visited a few times in the past, and don't drop by often because it is very baby-centric and very pro-surgery. What I found posted for advice addresses only a single form of CAH and never specifies which deficiency. This is problematic because, while about 90% of all cases of CAH are 21-hydroxylase deficient, there are two large groups of THOSE (one salt wasting, one simple virilizing) and 5-8% are 11-beta, which is sodium-retaining. The diagnostic tests for these are radically different and involve different enzymes.

From a message posted a couple of weeks back asking about whether to get a 17-OHP measurement in an ACTH stim test, the administrator replied:

If you have CAH, 17OHP levels will increase quite considerably and other adrenal hormones will increase too. Also cortisol levels will be low but if you do not have CAH, cortisol levels will rise.

The fact is, this is only true for 21-hydroxylase deficiency and 3-beta hydroxysteroid dehydrogenase deficiency. It is NOT diagnostic for 17-alpha hydroxylase deficiency or 11-beta. The normal range 17-OHP is what doomed me to go from doctor to doctor, who clucked at the 17-OHP value and refused to look at my 11-deoxycorticosterone/11-deoxycortisol values along with the low cortisol. I can't believe that leaders in CAH support groups everywhere are making the same bonehead errors as though there is only one form of CAH. Sure, 11-beta is only 1 in 100,000 live births, but that means there are 3,000 of us in the United States. How many are going without diagnosis?

[Luminous Butterfly]

This attitude is typical of British medicine as far as I have experienved - your 17OHP levels are fine on an ACTH stim test, therefore you do not have adrenal hyperplasia. There is also absolutely no discussion on what adrenal androgens are elevated, no names given out. I only know a few of mine's because I peeked at the screen. I requested copies of all bloodwork done through my GP each time, success. Endocrinology are not so forthcoming with paperwork unfortunately, and have stonewalled any attempt to find out exactly which androgens are elevated. The whole 'it's my body' excuse doesn't really seem to wash, either. Sad, that.

I think i'm pretty sure what website you're referring to, I'm guessing they're heavily supported in one way or another by the British Medical Foundation. The sooner the intersex aspect of CAH is discussed, or at least the virilization possibilities to use a more condition specific term, the more parents (and patients!!) will understand about the nature of the condition, inside and out. The adolescent section is quite frankly offensive and deeply hurtful in its suggestions.

Finally, I believe that the phrase 'social emergency' in reference to genital virilization has no place on any CAH website, or any other intersex condition website or informative resource for that matter. It ought to be banished it to the ninth circle of hell. Recognising the social implications of the potential of CAH as it acts upon the body is vital, and I am absolutely for this. This must be discussed fully, but it is not remotely constructive to approach it with an attitude of gender hysteria - it stinks of fascism.

[louisev]

Hey LB,

I had seen your previous message but it got lost in the server crash we had a couple of weeks back, good to see you again!

Actually, with CAH it isn't the 'type of androgens' that are at issue, it is the the mitochondrial steroidogenic enzymes, and other accompanying steroid products, not specific androgen products, that play the largest role in CAH: in 21 hydroxylase deficiency, 17-hydroxyprogesterone accumulates, ACTH, DHEA-S, and renin all rise to abnormal values. In 11-beta, 11-deoxycortisol and 11-deoxycorticosterone accumulates, renin and DHEA-S are abnormally low (I had an abnormally high BUN (Blood urea nitrogen), but it is true that cortisol is low and stays low. But cortisol, like blood sugar, is a moving target and you need to get 24-hour cortisols - which means lugging around a jug with you to pee in for 24 hours and then have it all tested.
I haven't educated myself enough on 3-beta but in that case I do know that 17-hydroxyprogesterone does rise, there are deficiencies in several areas since 3-beta hydroxysteroid dehydrogenase is required much further down the steroidogenesis chain.

But all of this is beside the point - anyone can now google the lab profile required for each type of CAH - anyone can download the laboratory reference values as well as the symptoms and differential diagnosis for each. There is absolutely no reason for this ignorance to persist. But - like the pro-surgery boosters, and the march toward entrenching the pathologization of non-conforming anatomy in CAH in the US with the "Disorders of Sex Development" standards of care that still insist that an infant girl NEEDS A VAGINA AT BIRTH and can't live with a clitoris longer than 2.5 cm or the world will end, the ignorance persists. And 11-betas do not get diagnosed, and die of cardiac stenosis, hyperkalemia, stroke and high blood pressure, and the beat goes on.

The good news is that the owner of that British site did grudgingly concede that she was a little careless in her comments and should have qualified them. But if doctors, and CAH support sites don't get it right, then how are volunteers who think there is only 'one kind' of CAH, 21 OHD, ever going to get it?

[louisev]

And here they are!

http://www.questdiagnostics.com/hcp/intguide/jsp/showintguidepage.jsp?fn=TG_CAH.htm

Every diagnostic panel is shown there.