Talk:Congenital adrenal hyperplasia

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[edit] Negative connotation at CAH

Hey there, Alteripse! Compliments on your amazingly extensive additions to CAH -- your work is truly impressive. However, I noticed some potentially negative connotation in one of your latest additions:

However, surgery for severely virilized XX infants is often performed and has become a subject of debate in the last decade. (my emphasis)

Considering the strong feelings over CAH and its potential for "correction" (and considering that some feel that CAH isn't something to be corrected), I'd hesitate to use the phrase "severely virilized" because of its negative connotation. Maybe "extensively virilized" (or something of the sort) may be better? Naturally, severely may fit the bill; you're the authoritative one here, of course. I just figured I'd bring it to your attention ;-) --Diberri | Talk 05:02, Jul 9, 2004 (UTC)

at the risk of agreeing with Alteripse ;-) I must say that I cannot immagine agreeing with anybody thinking that virilisation of an infant could be anything other than pathology. I hesitate to name the one group that may think otherwise. Erich 10:03, 9 Jul 2004 (UTC)

Thank you for reading it. I think the real import of your point is that some aspects of this disease have become sensitive topics. First, I am not yet done with this section of the article on surgery. The benefits and outcomes of surgery, and therefore whether and when to do it, are these days one of the two most controversial aspects of mgmt of cah in xx infants. I hope to have the whole article finished by the end of the weekend. I will try to do justice to both sides of the controversy, with references and best arguments.

Second, however, your specific comment actually seems to raise a different issue: whether the primary physical manifestation of an autosomal recessive condition that caused the death of about 5 to 10% of the infants who had it, that causes enough anguish to families that some choose to stop having children, that reduces both fertility and the frequency of adult sexual relationships, that costs a person several inches of growth, deserves to be described as mild-to-moderate-to-severe in its various degrees, as if it were an actual, honest-to-God disease or whether maybe we should suggest it is just a "different way to be human". Have I got your question right?

Your question seems to me to be based on an underlying assumption that it is somehow shameful to have a genetic disease and dehumanizing or at least insulting and disrespectful of us to acknowledge it. Since the majority of us writing and reading this article right now have or will have a "genetically influenced condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person", I would point out that recognizing that a condition is a disease is not the same thing as disrespecting or devaluing a person. If you go to medical school (as I think you are considering) you will recognize that the vast majority of people can distinguish their "disease" from their "person" and do not feel you have devalued them by referring to their condition as mild or severe (actually more are offended to hear they have a "mild" case of something than the opposite). Most of us prefer to think that person has a disease or a conditon rather than a person is a disease or condition.

Third, just because that disease affects the genitalia should not make it more shameful or more in need of euphemisms that suggest it might not be a bad thing to have. Have I addressed your concern?Alteripse 11:09, 9 Jul 2004 (UTC)

Thanks for your detailed and thoughtful response -- you captured my original intent in the first paragraph :-) I didn't intend to suggest that CAH is neither a disease nor able to be classified as mild to severe. It was really a matter of word choice: from time to time, I've come across a few folks who vehemently oppose genital reconstruction of virilized females, and I would suspect that those very same people would generally not like the use of the term severe in association with female virilization. My concern was that perhaps your edits may be misconstrued as POV.

That being said, I wholly agree that we should give people more credit for their ability to differentiate between the disease and the person with the disease, and so it would seem that my original POV concerns are moot. Thus I support your original use of "severely virilized" -- imprecise euphemisms (such as the one that I suggested) should be avoided. Again, thanks for your great work. Cheers! --Diberri | Talk 15:51, Jul 9, 2004 (UTC)

The surgery issue is a real and important one and deserves more explanation. I apologize that my answer mainly responded to the semantic quibble aspect of your question if the surgery debate was your main point. Give me 2 days to finish the surgery section and then I would welcome review and criticism. Alteripse 18:22, 9 Jul 2004 (UTC)

The following refers to the above paragraph which begins Your question seems to me to be based on an underlying assumption that it is somehow shameful to have a genetic disease...

This whole opinion could of course be challenged by a certain group of people who seek to enrich their gene pool by selectivley breeding to enhance the prevalence of a trait linked to CAH and suggested to give them 'greater intellegence' - no matter what I think of the condition, this largest group of CAH individuals would probably not like the association of CAH with disease.User:nic@sounddesign.co.nz 11:56, 21 April 2007 (NZ time)

I am almost afraid to ask what group you refer to, or what aspect of CAH you think confers "greater intelligence".  ? alteripse 19:20, 22 April 2007 (UTC)

Really?

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=17275379&query_hl=2&itool=pubmed_docsum

As CAH goes I understand their prevelant effects are minor salt wasting and thats about it. I don't know that the CAH itself leads to intelligence, I think it is suspected that it perhaps closley linked to the polymorphic gene. have you not heard of the procedure where by relations are mated togeather. eugenics. some people still practice it.

Not sure I follow you. Your reference shows that different mutations/polymorphisms are present in different frequencies in different ethnic groups-- hardly news and exactly what you would expect about polymorphism distribution. I agree there is no clear evidence that carrier status or the disease itself boosts intelligence-- I hesitate to encourage you by telling you about a single paper published by Anke Erhardt, one of John Money's protege's, in a conference proceedings in 1977 reporting uncontrolled studies showing that patients with non-saltwasting CAH had higher IQs than their non-CAH sibs. Eugenics means lots of different things in different contexts, but its common and most benign version advocates social policies that encourage the "best" people in a society to have more children than the "worst" people in a society. That actually is not the same thing as relatives deciding they like their own genes well enough to have children with other people carrying as many of those genes as possible (sort of like an updated version of the conservation of divinity by marrying siblings practiced by the Egyptian pharoahs?). In general in a population, there is a mild tendency toward preference for mating with one's own ethnic group, which has the effect of slowing diffusion of specific gene polymorphisms. alteripse 02:21, 23 April 2007 (UTC)

Look, I hate to disagree but their is almost always consanguanuity involved in recessive traits. You are right that it is not always so insipid, and is often quite inocent. ethnic groups tend to stick togeather etc. However sometimes these issues are quite serious and troubling. I don't think those people for who that is an issue should be ignored.

re, intelligence. Google or pubmed search Ashkenazi Jews CAH eugenics. Have you not heard of the practice where an aunt is mated with her nephew to produce offspring, and increase the stregnth of the gene pool. I have heard of that article by Erhardt suggesting CAH IQ on average 107-113 or something, which is higher than normal. I don't think this always held true in serious disease forms of the condition. Rightly or wrongly it does happen (eugenics), and sometimes things are even more malicious than this. Women are raped by family members etc.

I think a test for consanguanuity should be an essential part of any test into congenital defects, although this test virtually never happens in the west. People don't like to think about it. Test results are always kept private, and doctors are really the equivalent of modern day preists now in this regard. Except they differ from a catholic preist in one way - if they suspect harm they don't have to keep the secret and can inform the authorities. —The preceding unsigned comment was added by 125.239.30.151 (talk) 06:56, 23 April 2007 (UTC).

[edit] Adrenogenital Syndrome

This used to be known as Adrenogenital Syndrome and is still sometimes be referred to as such. How about a redirect page "Adrenogenital Syndrome" and the addition of "originally known as . . . ." to this article?

If you look in the history section, it already says that it used to be known as adrenogenital syndrome. A redirect from adrenogenital syndrome has existed since 2004. alteripse 00:31, 4 September 2006 (UTC)

And now it also exist for Adrenogenital Syndrome. --WS 08:33, 4 September 2006 (UTC)

[edit] LOCAH

Someone needs to add a blurb about Late Onset CAH. I'm not qualified. Any takers?

The manifestations are mentioned in the second paragraph of this article. The diseaese is detailed in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. alteripse 11:07, 8 February 2007 (UTC)