Talk:Congenital adrenal hyperplasia

Bizarre/ignorant claim
Article says: "The incidence varies geographically. In the United States, congenital adrenal hyperplasia is particularly common in Native Americans and Yupic Eskimos (incidence 1/280). Among American Caucasians, the incidence is approximately 1/15,000.[4]"

This is not a "geographic" distinction. There are Native Americans all throughout the United States. People are not "Native Americans and Yupic Eskimos" based on their "geography." — Preceding unsigned comment added by 121.125.67.217 (talk) 13:52, 24 July 2014 (UTC)

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).

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)

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)

hypertension?
I have been reading around the subject of CAH and noticed hypertension listed as a symptom this is contradictory to www.healthscout.com and Wikipedia’s article on Addison (a similar condition) which suggest it should be hypotension not hypertension. —Preceding unsigned comment added by 194.81.199.54 (talk) 12:26, 25 October 2008 (UTC)
 * 17a and 11b are associated with hypertension, and 21a is associated with hypotension. Because 21a is by far the most common type, hypotension is more common than hypertension. --Arcadian (talk) 18:05, 28 March 2009 (UTC)

Thanks for that Arcadian  —Preceding unsigned comment added by 80.46.32.164 (talk) 20:47, 6 March 2010 (UTC)

Gender identity
Gender identity varies among cases. According the journal Pediatrics, 90% of these patients eventually identify themselves as female. Gender should not be assigned prior to birth and without expert care. Parents of the patient are recommended to raise them as female. Patients who choose to live in the gender other than what they were assigned may or may not considered themselves transexual or transgender because they are primarily self-ascribed labels. The American Psychiatric Association does not diagnose them with gender identity disorder. "These girls display some degree of behavioral masculinization; as described by their siblings and parents they seem to have the following characteristics: engge in increased physical activity,characterized as tomboys, prefer male playmates, perfer typical male toys to typical female toys, fewer games the stimulate mother like behaviors like "house," not much interst in the care of infants, less interested in their looks, and have fewer fantasys that other girls about marriage and having children."


 * I removed the above section because it was misplaced, mistaken, and misleading. Among the problems with it: You could not guess from the wording that the writer actually understands that, as shown in the 1950s by John Money and corroborated by every study done since, the vast majority of people with CAH, like most people everywhere, develop a gender identity that matches their sex of rearing. And again, to no one's surprise, people "who choose to live in the gender other than what they were assigned may or may not considered themselves transexual or transgender" (regardless of whether they have CAH or not). The additional assertion that this is a claimed rather than imputed label is simply silly: one might make a fair argument that gender identity and gender dysphoria are self-claimed status and condition, but the social labels of "transsexual" and "transgender" refer to categories that can be objectively described and assigned by others. Moving on, I have a hunch the contributor does not understand that the "90%" refers not to all people with CAH, but only to a subset of genetic females with a specific type of CAH (21OH of severe degree). Of course the APA does not diagnose people with CAH with a gender identity disorder-- hardly any doctors ever have. But gender certainly can and should be assigned before birth; this prevents mistaken assignment of potentially fertile genetic females as males, and if done early enough gives the parents an opportunity to treat to reduce virilization. Finally, while the last paragraph is true of the subset of genetic females with severe 21OH CAH raised as girls, it is not true of the overall majority of people with CAH and belongs not here but in the appropriate section of the 21OH article. alteripse (talk) 03:34, 18 December 2009 (UTC)

Jacob M. Appel spam links and blocked sockpuppets
I have removed non-notable content and links added by one of many blocked sockpuppets spamming links to Appel's Huffington Post blog posts. Please see Talk:Jacob M. Appel for more discussion on sockpuppets and spamming. Flowanda | Talk 08:59, 30 October 2010 (UTC)

Questions regarding the section: http://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia#20th_and_21st_century
Was the individual described here (Joseph Marzo) classified as 5 on the Prader scale?

Did he develop breasts or was he too virilized?

Did he menstruate since he had "normal internal" female organs? If so, how was this physically possible for him since he had a penis/pseudo-phallus?

How was he able to live as a male his entire life?

Bias and non-medical/non-scientific opinions
This article has an extreme amount of biased content in the form of non-medical and non-scientific opinions. The appearance is that the article is being mis-used as a forum to promote non-medical, non-scientific agenda.

This article needs a rating panel.


 * Care to expand? What parts of the article do you feel are biased and unscientific, and how can they be improved with additions/deletions based on reliable sources?
 * GeekX (talk) 07:22, 11 June 2019 (UTC)

Lancet seminar
10.1016/S0140-6736(17)31431-9 JFW &#124; T@lk  12:02, 10 November 2017 (UTC)

Source
here


 * Barbara (WVS) ✐ ✉  12:50, 27 January 2018 (UTC)

Technically females with CAH don’t have penises
Females with CAH don’t have penises. A penis is a male sex organ used for peeing and ejaculating sperm so you need testicles for it to be classified as a penis so, technically not a penis.

I found these new and updated information on the Prader Scale.


 * https://www.ncbi.nlm.nih.gov/books/NBK278953/figure/congn-adren-hyprplsa_f_congn-adren-hyprplsa_etx-ped-ch8-fig2/ - this article is not available
 * https://www.chop.edu/news/classic-congenital-adrenal-hyperplasia-diagnosed-newborn-period - this source does not mention CAH not having penises, only that one individual with a Prader stage 5 had a phallic like structure (which does not excrete out the tip like stage 6 would)
 * https://go.gale.com/ps/anonymous?p=AONE&sw=w&issn=00979805&v=2.1&it=r&id=GALE%7CA427960694&sid=googleScholar&linkaccess=fulltext - this source is library locked and focuses on the ethics of early nonconsensual genital mutilation
 * https://www.sciencedirect.com/science/article/abs/pii/S0303720708005625 - this source only mentions prader scale once, in the citations

No source provided for claim of testicles being needed

CAH-X - NVM it's mentioned on the CAH-21OHD page
Edit: I've realized it is actually mentioned on the variants section for 21-OHD specifically. Not entirely sure how to delete this section of talk

I'm not really an editor nor even really know how to format edits, but thought I'd give an update. CAH-X is a newer term to describe having a 21-hydroxylase deficiency with a phenotype of Elhers Danlos Syndrome. It comes in varying levels and can be present from classical CAH to NCAH. I'm not sure how to format links so I apologize. coined in 2013 2015 study, 2018 study, 2022 study Cat-tboy (talk) 16:29, 26 April 2024 (UTC)