Talk:Late onset congenital adrenal hyperplasia

Merge discussion
Can't really see why this should be its own article, when it's already covered under Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Congenital adrenal hyperplasia. Couldn't find an OMIM or NORD or NIH or anything reference for this as its own, significant condition, only for congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

· • SUM1 • ·   (talk) 22:36, 6 February 2020 (UTC)


 * I thought it was odd that the article didn't exist when I created it. There is no mention of LOCAH under congenital adrenal hyperplasia (where I looked initially, and it still seems that way). This is tough since LOCAH has causes outside of 21-hydroxylase deficiency though that is the most prevalent (like CAH). LOCAH is certainly often described in scholarly sources as its own thing (milder than CAH), casual searching and the papers currently cited in the article show that clearly.  I think the right resolution is simply to have a page for each specific LOCAH cause just like there is currently for CAH and remove LOCAH (or link) from Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. EDIT: Or just make sure the existing LOCAH material is moved into congenital adrenal hyperplasia and then add LOCAH section in each specific CAH variant with specific citations. Maneesh (talk) 23:46, 6 February 2020 (UTC)


 * In that case, it's better off as a section in Congenital adrenal hyperplasia. I tried a Google Scholar search of late-onset vs. just congenital adrenal hyperplasia: it has just 2% of the number of results. In Google, the disparity is more like 1.5%. This search is particularly telling. I went through all of the first-page results. Very few and scattered mentions of late-onset CAH in regards to CAH overall. Even the first result, a recent review, only mentions it once: "The mild form is also known as the late-onset or non-classic form (NCAH). However, this classification system is somewhat artificial because disease severity is better represented as a continuum based on residual enzyme activity." And again, nothing on any official databases. So I was mistaken (by the raw subtype prevalence rates and the resultant Google results) that it had to do with 21-hydroxylase deficiency. I'll update my merge notice. But it still belongs as a section in Congenital adrenal hyperplasia, in my opinion. I'll wait until this gets more opinions. · • SUM1 • ·    (talk) 11:38, 7 February 2020 (UTC)


 * I don't think that measuring via search results this way is particularly informative in this case. CAH and LOCAH have *different symptoms* at birth and different treatments and different prevalence. Males and females are affected by CAH by but males are generally asymptomatic with LOCAH. LOCAH has, for whatever reason, been used to support the idea that ~1% of the population is intersex (of course, LOCAH is not an intersex condition from the clinical perspective as the Sax article cited in the WP article explains). You can easily find many papers that focus on classic CAH and other papers that focus on LOCAH (fixed link).  The two things are obviously related, but I don't there is any question that LOCAH and CAH are distinct enough to *always* be discussed distinctly in scholarly publications.  Not sure what you are counting as an 'official database' here?  I can find it here (who knew the NIH's rare disease database also contains diseases that are not rare!). Maneesh (talk) 17:09, 7 February 2020 (UTC)


 * That LOCAN link was a dead link by the way. The results were not just for the figures but for the detailed coverage, as I later explained. I'm starting to see your basis for this being an article, especially when I saw the frequency (1 in 150). Its symptoms are primarily milder (as it is merely a lesser deficiency in the same genes), but I know there's the complete/partial/mild androgen insensitivity stuff to worry about (the latter of which is the one with minimal coverage/database entries, 1/10th of that of partial and 1/20th of that of complete, and all 3 articles were created by the same person, most likely based on the designations included in NORD). I still want to see what other people have to say, but if the article decides to be kept, I will help build it with you. One thing to note, rename it to "Non-classical congenital adrenal hyperplasia", as that name (in various formations) is 3 times more common, mostly in that formation (including on NORD). · • SUM1 • ·    (talk) 18:28, 7 February 2020 (UTC)


 * I must've made a cut and paste error with that link, I've fixed it. Symptoms aren't merely milder, CAH can result in anatomical differences, LOCAH does not.  'non-classic' vs. 'non-classical' vs. 'late onset' congenital hyperplasia is a tough one...'non-classic' seems to be more frequently associated with the highest quality clinical sources IMHO.  It seems that congenital hyperplasia is really focused on 'classic congenital hyperplasia'.  It isn't clear to me that CAH and LOCAH share the exact same set of underlying genes as causes, I believe there are different underlying mutations and presumably idiopathic cases in both. It might make sense to reduce detail under 'congenital hyperplasia' and have it link to 'classic' and 'non-classic' moving the detail under 'classic'.    The 'congenital hyperplasia' article can briefly describe commonalities, but I think there would need to be specific CAH and NCCAH pages for each gene variant.Maneesh (talk) 19:33, 7 February 2020 (UTC)


 * I would point out that I'd struggle to accept separate articles for "congenital adrenal hyperplasia", "classic congenital adrenal hyperplasia" and "non-classic congenital adrenal hyperplasia". If that were the case, the first one would have to be made into a disambiguation page. However, it seems this article has remained a stub in the month since I proposed this merger, and no one has commented. Because of where you've linked it on Intersex, it gets 1,200 monthly views, which is not a lot but is decent and definitely disproportional for an article of this size and development, so I guess I expected to hear something. I'll stick a Request for Comment on here and see if that speeds things up a little.
 * As of now, I would say it's not unreasonable to merge this article into a late-onset section of congenital adrenal hyperplasia until it grows a fair bit, and then consider unmerging it. But ultimately you can have all of the benefits of this article in that section. The entire thing can be merged cleanly. · • SUM1 • ·    (talk) 18:05, 11 March 2020 (UTC)


 * I do not think it would be unreasonable to merge, but then there has to be a very clear layout in that page that isn't there right now. I do not believe the genotype/phenotype correlation in LOCAH is clear. I must emphasize how LOCAH is discussed as a distinct phenomenon in clinical literature. Just a random set of articles that focus on LOCAH in various contexts.  CAH is potentially fatal without treatment, LOCAH is not. There are odd practices about deceiving young females with CAH that they are not females, not with LOCAH. Different prevalences, different clinical treatments etc. etc.Maneesh (talk) 19:42, 11 March 2020 (UTC)
 * I should also add that there are already different pages for the different CAH enzyme deficiency variants: Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency, Congenital_adrenal_hyperplasia_due_to_11β-hydroxylase_deficiency, Congenital_adrenal_hyperplasia_due_to_3β-hydroxysteroid_dehydrogenase_deficiency, Congenital_adrenal_hyperplasia_due_to_17α-hydroxylase_deficiency, Lipoid_congenital_adrenal_hyperplasia.  I am not certain, but think that LOCAH can be caused by any of those enzyme deficiencies, integrating LOCAH into the CAH pages should be done in a sensible way.  Merging those pages under congenital adrenal hyperplasia probably should be done as well if LOCAH is to be merged with congenital adrenal hyperplasia.Maneesh (talk) 20:57, 11 March 2020 (UTC)

You are absolutely welcome, if you find the sufficient sources to suggest LOCAN is significantly different from CAN in the ways you mention, to re-attempt to create it as a separate article. But, if we're operating under immediatist principles (and I wouldn't say this has been that immediatist, since it's been over a month), the article can't really stand as it is now.

You mention a need for a clear layout in the destination section. Currently, there isn't one on this article. But please, go ahead and make that layout in that section.

You are also welcome to make as clear as you like how different LOCAN is from CAN in its relevant section. I encourage you to.

Also, I was aware of the articles for the different subtypes of CAH. I believe I have a rough overview of what medical condition articles have subtype articles and to what degrees. I do notice an insistence on more articles for subtypes for intersex-like conditions, I believe due to the identity role it plays for the person.

You instigated me to do basically as much research as I could to establish and narrow down the chances that this article was appropriate to stand as its own article, which came out in my mind at something around 20–40%. You may be right in that it's above 70%. However, the way the article currently stands, it only conveys about a 0–10%. I am not in objection to mergers of the subtypes you mentioned, nor am I in favour yet, because I haven't done the research. I would, but currently I don't have the time. Nothing's stopping you from opening merger discussions for the subtypes if you have reasonable belief that they don't belong as articles.

I also thank you for a very courteous and pleasant discussion. Hadn't been having many of those recently. · • SUM1 • ·   (talk) 22:01, 13 March 2020 (UTC)
 * Cheers! I'm not quite sure how you estimate your percentages so precisely ;), but I've filled things in a bit.  The 'history' and 'treatment' sections will take some time.Maneesh (talk) 07:13, 14 March 2020 (UTC)

My opinion is the following. The page Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is big and has almost no medical citations. I've added a few, but I think I would be unable to do that. The person who wrote this text should have done that, but I do not now have enough capacity for that. On the contrary, the page Late onset congenital adrenal hyperplasia is relatively small and I have managed to put all the references where needed, almost to all the places; there are just a few places left. So it is easier to make a perfect "star" page from it. If we merge these pages, we will throw good thing after bad. Let us first make the bigger page perfect and then talk again about the merge. Until that, I propose to remove the merge banner. What do you think? We have spent more time arguing than we could have spent on improving the bigger page. Look, for example, at a page 21-Hydroxylase. It is a small neat page with enough references. We have to make all the pages like that. ---Maxim Masiutin (talk) 15:33, 27 September 2020 (UTC)
 * That makes sense to me. The edits you've made here and to related pages seem good and appropriately supported. This page has a good tone with good scientific support for assertions, replicating that tone in related pages before merging makes sense.  Maneesh (talk) 19:35, 27 September 2020 (UTC)
 * Thank you for your opinion! Would you mind if we removed the "merge" template, because of all above said? ---Maxim Masiutin (talk) 13:34, 28 September 2020 (UTC)
 * That makes sense I think, it's been there for awhile without any other input. Maneesh (talk) 18:23, 29 September 2020 (UTC)

Request for Comment on merge
Should Late onset congenital adrenal hyperplasia (currently a stub) be merged into a "Late-onset" section of Congenital adrenal hyperplasia (similar to the one on Congenital adrenal hyperplasia due to 21-hydroxylase deficiency)? · • SUM1 • ·   (talk) 18:05, 11 March 2020 (UTC)
 * support per SUM1 rationale--Ozzie10aaaa (talk) 12:19, 12 March 2020 (UTC)

Haven't seen much activity here. I've filled in the page and I think it's pretty clear it isn't a straight forward merge. I'd propose putting all of: Congenital adrenal hyperplasia, Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency, Congenital_adrenal_hyperplasia_due_to_11β-hydroxylase_deficiency, Congenital_adrenal_hyperplasia_due_to_3β-hydroxysteroid_dehydrogenase_deficiency, Congenital_adrenal_hyperplasia_due_to_17α-hydroxylase_deficiency, Lipoid_congenital_adrenal_hyperplasia as well as this one under a single page. A lot of work, but, better I think.Maneesh (talk) 02:25, 22 April 2020 (UTC)

Androgen Backdoor Pathway
Neat stuff but it looks a little too prominent, no? The main study behind the clinical application of the idea seems like a single case report? Maybe 'molecular genetics' should be renamed to 'molecular biology' which can then include genes and pathway level details? Maneesh (talk) 17:29, 11 September 2020 (UTC)
 * Thank you for pointing that out. The case report is also a mini-review of existing studies related to androgen backdoor pathway. There are at least 3 studies that confirm the androgen backdoor pathway in vivo - they are given in this case report. So, this case report is a secondary study for these ones. That's why I have given that case report as a secondary study. ---Maxim Masiutin (talk) 18:09, 11 September 2020 (UTC)
 * The backdoor pathway makes sense but it's precise prevalence in LOCAH/NCCAH isn't totally clear to me, reading the refs, it seems like a preliminary hypothesis at this point. Would you agree? Maneesh (talk) 18:21, 11 September 2020 (UTC)
 * Yes, I agree. That mini-review attributed the "backdoor" pathway only to mild, late-onset cases. But after reading your observation I have found various studies that blame the "backdoor" pathway as the main cause for foetal veriliziation. So it seems that the "backdoor" pathway exist regarless of the severity of the 21-hydroxylase deficiency. ---Maxim Masiutin (talk) 18:27, 11 September 2020 (UTC)
 * Is now the section on Androgen backdoor pathway easier to understand? ---Maxim Masiutin (talk) 14:15, 16 October 2020 (UTC)
 * I actually went through and clarified it but then stopped when I realized I think the detail is perhaps too much when we look at its relevance to LOCAH. The relevance to human physiology from the Miller 2019 paper seems to be pretty speculative "...leading to the conclusion that both the “classic” pathway of androgen synthesis and the “backdoor” pathway are needed for normal human male genital development [22]. Nevertheless, these studies provided only indirect evidence, as androgens in the circulation and tissues were not measured in these fetuses....".  I can't see all the refs behind paywalls (Perrin 2018 seems to be where the assertion is being made). In Sumińska 2019, the relevance to LOCAH seems to be about confounding diagnosis of LOCAH ("... it is essential to emphasize that diagnostics of hyperandrogenism in girls/women cannot be limited to crude estimation of total or free testosterone levels, which can be normal. Circulating DHT levels and also the androgen backdoor pathway of its synthesis should be considered equally. This approach may provide more precise data as steroid metabolites might suggest not only confirmation or exclusion of CAH, but sometimes also explain more complex steroidogenic and metabolic traces."). The section, as it is, does suggest this idea in the last sentence but it is after a considerable amount of detailed biochemistry.  Should the section be shorter focusing (perhaps just a few sentences about confounding) and all the biochemistry its own page? Maneesh (talk) 15:19, 19 October 2020 (UTC)
 * Maybe I make a new separate Wikipedia page on the androgen backdoor pathway in 21-hydroxylase deficiency? The pathway equally applies to both classic and non-classic CAH, and in classic CAH it is even more evident, because of virilization of female infants. But in non-classic CAH, the backdoor pathway is not always considered. Levels of testosterone may be low, while DHT may be high. Or even both of them may be low, but 11-keto-androgens may be high. This is very hard to diagnose. Hyperandrogenism may be very mild and that's why there may be pitfalls and confusions. Some of the studies that I quoted are not related to non-classic CAH but to the backdoor pathway in general, and some paths may or may not exist in NCCAH, this is yet not well studied. But that the pathway exists in NCCAH for sure is well proven by a few references that I gave. How should we proceed? ---Maxim Masiutin (talk) 16:39, 19 October 2020 (UTC)
 * My humble suggestion would be to make a androgen backdoor pathway entry and moving this material to there (which I've just done) to get it started and then this section can be trimmed to focus on LOCAH relevance. If you think that is a good path, I can try trimming this section down to something like 3 sentences with relatively little biochemical detail and then expanding the newly created page with a softer introduction and comparison to standard pathway. Maneesh (talk) 18:48, 19 October 2020 (UTC)
 * I have edited the new page "androgen backdoor pathway". Please review. Please trim the section.

Molecular Genetics section
Can you please leave the "Molecular Genetics" section intact, because there are very good secondary souses like clinical guidelines about the CYP21A2 genetic testing. I will expand the section. ---Maxim Masiutin (talk) 19:09, 11 September 2020 (UTC)
 * Cool, sounds good. Maneesh (talk) 19:47, 11 September 2020 (UTC)

Merge plan
I agree that now we have overlapping material in the following pages:
 * Congenital adrenal hyperplasia
 * Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
 * Late onset congenital adrenal hyperplasia

It is very hard to manage this overlapping material. But due to the poor quality the of pages, especially first two of the list (statements are not backed up by references and are sometimes dubious), it would be very hard to merge the pages. So we should clean up the pages first, add references and remove statements not supported by references, and then merge. Until then, I propose the following rules.

Page maintenance plan
The page "Congenital adrenal hyperplasia" should only list material for the classic form and that is applied for all forms. Any material relevant only for mild forms should be moved to "Late onset congenital adrenal hyperplasia". These two pages should only describe common clinical symptoms common for all the forms, without much attention to the enzymes and steroid pathway. Particularities that depend on enzymes like 21-hydroxylase, genes like CYP21A2 and steroids processed by these enzymes, should be moved to separate pages, e.g.
 * Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
 * Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency
 * Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
 * Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency

As about the pages about particular enzymes (e.g. 21-hydroxylase) or steroids, I propose the following rule: to focus on the function of the steroid or the enzyme before mentioning any diseases caused by gene mutations that encodes the protein for this enzyme (or lack/excess of the steroid). To understand the disease, one should first understand the function of the enzyme or the steroid. I think that now the page 21-hydroxylase is a good example of obeying this rule. Of course, the page has room for improvement, but at least it follows the rule that I have described.

---Maxim Masiutin (talk) 14:06, 28 September 2020 (UTC)
 * I think you've thought about how to do this right more carefully than I have. Again, I think this makes a lot of sense (I apologize that I don't have much more feedback than 'that makes sense', but there really isn't much more to say!). Maneesh (talk) 18:28, 29 September 2020 (UTC)

Cited source does not support the conclusion about intersex
Cited source does not support the material in the passage. The authors of the article did not mean that "LOCAH-affected individuals account for 88% of the often cited 1.7% prevalence of intersex conditions" as it is written in Wikipedia. This article is a critique on conditions which Fausto-Sterling considers to be intersex. The authors took the conditions proposed by Fausto-Sterling and analyzed LOCAH-affected individuals. The authors figured out that 88% of LOCAH-patients match the conditions proposed by Fausto-Sterling. This only means that the authors considers these conditions are incorrect, as further explained in the article. That's why it is a wrong statement in Wikipedia that LOCAH-affected individuals account for 88% of individuals with intersex conditions. Besides that, this "often cited" parts needs attribution (by whom?) according to Wikipedia rules. As a result, this sentence as it is now on Wikipedia lacks attribution, is taken improperly out of context of a work that is a critique of another work, and both of these works did not find confirmation on secondary studies like reviews or clinical practice guidelines.

You can read the article at http://homes.chass.utoronto.ca/~sousa/teach/PHL243-06.MAIN_files/20065_phl243h1f_archive/SAX-on-Intersex.pdf at the moment. Reading it as a whole would avoid taking data out of context.

---Maxim Masiutin (talk) 11:32, 11 October 2020 (UTC)
 * I made this edit, so it now reads, LOCAH-affected individuals account for 88% of Anne Fausto-Sterling's figure of a 1.7% prevalence of intersex conditions. Leonard Sax states that, from the clinical perspective, LOCAH is not an intersex condition. This seems to address the issue by adding more in-text attribution. (That it makes up 88% of Fausto-Sterling's figure does not appear likely to be in dispute by other sources and so does not need attribution.) I do think this is a point worth mentioning in this article, since Fausto-Sterling's figure is rather common, at least in non-medical circles, and often used in a fashion that makes people think the more severe conditions are that common, something that Sax addresses in his article. Crossroads -talk- 16:02, 11 October 2020 (UTC)

Thank you for your edit. However, now things became even worse after the edit. It now appears as though Wikipedia legitimizes an invalid theory.

Anne Fausto-Sterling have proposed a list of conditions that she considers intersex. Applying her list of conditions, she calculated that the prevalence of intersex might be as high as 1.7%. To arrive at that figure, she defines as intersex any "individual who deviates from the Platonic ideal of physical dimorphism at the chromosomal, genital, gonadal, or hormonal levels". Using her definition of intersex as "any deviation from the Platonic ideal", she lists some conditions as intersex, including late-onset congenital adrenal hyperplasia (LOCAH).

This figure of 1.7% calculated by Fausto-Sterling as intersex prevalence has been disputed by Leonard Sax, who came up with a figure of 0.018%. The main argument by the Leonard Sax was that the list of Fausto-Sterling's conditions is wrong, and the "Deviation from the Platonic ideal" is not a clinically useful criterion for defining a medical condition such as intersex. As an argument against Fausto-Sterling's theory, Leonard Sax reviewed the list of conditions which Fausto-Sterling considers to be intersex, he found that late-onset congenital adrenal hyperplasia (LOCAH) accounts for 88% of all those patients whom Fausto-Sterling classifies as intersex.

Leonard Sax gives the following arguments against Fausto-Sterling's theory, and, in particularly, inclusion of LOCAH in the list of intersex conditions: "Fausto-Sterling recognizes that if her definition of the intersexual as "an individual who deviates from the Platonic ideal of physical dirhorphism" is to have any clinical relevance, then at least some patients with LOCAH must occasionally have problems which are intersexual in nature. Accordingly, she asserts that "when late-onset CAH occurs in childhood or adolescence and causes significant clitoral growth, it is quite possible that surgical intervention will ensue. The only reference given in support of this statement is a first-person account in the woman's magazine Mademoiselle (Moreno & Goodwin, 1998). However, the article in Mademoiselle describes a phenotypically female but genotypically male (46,XY) individual with androgen insensitivity: in other words, a case of true intersexuality. LOCAH is never mentioned. In a large-scale investigation of the natural history of LOCAH in women, the chief complaints of symptomatic women were one or more of the following: oligomenorrhea, hirsutism, infertility, or acne. These investigators noted that "in some cases, affected girls have shown mild clitoromegaly, but not true genital ambiguity". Many women have no symptoms at all: "Probably many affected individuals are asymptomatic," notes another recent review (White, 2001, p. 25). A recent study of 220 women with LOCAH found mild clitoromegaly in only 10%; moderate or severe clitoromegaly was not reported (Moran et al., 2000)."

As you see, the Anne Fausto-Sterling's inclusion of LOCAH into intersex conditions is not based on solid research but on anecdotal evidence of a single case of a 46,XY male without LOCAH, i.e. improperly taken from a magazine where LOCAH was not mentioned at all.

Leonard Sax also explains that the genitalia in LOCAH babies are normal at birth. Average woman with this condition does not present until about 24 years of age, men with LOCAH present later, if ever. Many go through life undetected or are discovered only incidentally. For example, if a daughter is discovered to have classic congenital adrenal hyperplasia, the parents often will be tested for evidence of overproduction of adrenal androgens, and one parent thereby may be discovered to have LOCAH. The most common presenting symptom of LOCAH in men is thinning of scalp hair, but even this symptom is seen in only 50% of men with LOCAH under 50 years of age.

That's why Leonard Sax considers that Fausto-Sterling's theory is invalid.

If you wish to include this on Wikipedia, we can put it differently, like that the idea by Anne Fausto-Sterling's of inclusion of LOCAH into the list of intersex conditions was based not on research and publication in peer-reviewed medical journal, on a single flawed case when presumably LOCAH caused causes significant clitoral growth in adolescence. However, not a single case of this kind was described in medical literature. All what was described in medical literature on LOCAH was hirsutism, acne, etc.

---Maxim Masiutin (talk) 17:26, 11 October 2020 (UTC)



There are confirmations that classic CAH may be related to intersex, but not LOCAH.

Here is a recent review in a highly-respected medical journal: https://www.nejm.org/doi/10.1056/NEJMra1909786

This review states the following:

Girls with classic CAH in the absence of newborn screening may have clitoromegaly or a urogenital sinus that was not noticed earlier in life.

Children with nonclassic CAH may have evidence of androgen excess at various ages, but they are older and less symptomatic than children with classic CAH presenting beyond the neonatal period, and girls have normal genitalia.

As compared with unaffected girls, those with classic CAH have been reported to have more aggressive behavior.

Sexual orientation in women with CAH has been reported to correlate with androgen exposure, with the prevalence of a female sexual orientation ranging from approximately 5 to 15% among affected women. Avoidance of romantic relationships is common. Although hormonal influences may contribute to such behavior, women with classic CAH have reported stigma in reaction to atypical genital and nongenital sexual characteristics of CAH, contributing to avoidance of intimacy.

I have found a link on sexual behaviour, here it is: https://pubmed.ncbi.nlm.nih.gov/18157628/ ("Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess")

I didn't read this one whole article, but the abstract section states that the rates of bisexual and homosexual orientation were increased above controls not only in women with classical CAH, but also in LOCAH women, and correlated with the degree of prenatal androgenization.

However, this is strange for me, because my understanding is that prenatal androgenisation does not exist in LOCAH because prenatal androgenisation is what differentiates LOCAH from classic CAH.

Finally, the article https://pubmed.ncbi.nlm.nih.gov/15146142/ ("Prenatal androgenization affects gender-related behavior but not gender identity in 5-12-year-old girls with congenital adrenal hyperplasia") also probably means classic CAH, not LOCAH.

---Maxim Masiutin (talk) 18:18, 11 October 2020 (UTC)



Anne Fausto-sterling states that hormonal imbalances define intersex conditions, and that LOCAH qualifies for intersex. Leonard Sax uses this 88% figure to demonstrate the absurdness of this theory. He found that 88% of LOCAH-affected individuals show altered basal steroid levels. In LOCAH, the steroids that are altered are mostly high androgens. In addition, LOCAH-affected people may also have high progesterone, high 17-OH-progesterone and low corticosteroids, and they have other steroids that are not found in non-LOCAH or non-CAH individuals. These steroids are 11-ketotestosterone (a potent androgen) and 21-deoxycortisol. This hormone abnormalities are mostly very mild in LOCAH, and often produce no symptoms, let alone symptoms that may be qualified as intersex. But, technically, Leonard Sax found hormonal imbalances in 88% of LOCAH patients. This does not mean that Leonard Sax considers these 88% of hormonal imbalances as intersex condition. We should make it clear on Wikipedia. If we wish to keep it, however, we should put it differently. However, it would be challenge if we would like to keep conforming to the WP:MEDMOS and WP:MEDRS rules. As it is stated now, is a clear violation. We should not use Wikipedia as a venue to contradict a quote that was improperly cited in a non-medical literature. ---Maxim Masiutin (talk) 20:41, 11 October 2020 (UTC)
 * Okay, how would you like to word it? Fausto-Sterling's estimate is fairly widespread in certain circles, so I think we should say here that 88% of that group is made of LOCAH. So could you please write up a version you think is acceptable? Crossroads -talk- 20:54, 11 October 2020 (UTC)
 * I propose to use this version:

It keeps the link, but removes the figures of 88% and 1.7%, since these figures do not add value and are from very-low-quality sources, if we read the rules at WP:MEDMOS and WP:MEDRS. Also, the rules explicitly prohibit using Wikipedia to comment articles: https://en.wikipedia.org/wiki/Wikipedia:Manual_of_Style/Medicine-related_articles#Trivia

You wrote that these figures are common in non-medical publications and are often cited here. But you actually propose to use Wikipedia to comment these low-quality sources just because they are cited. Wikipedia discourage citing popular press (WP:MEDPOP), yet alone discussing conclusions made in popular press. For example, if articles in popular press tend to overemphasize the certainty of any result, for instance, presenting a new and experimental treatment as "the cure" for a disease or an every-day substance as "the cause" of a disease, we should not discuss in Wikipedia that these conclusions in popular press are wrong.

That's why I have offered to simply write as in the version of " ".

---Maxim Masiutin (talk) 21:45, 11 October 2020 (UTC)
 * MEDPOP does allow for such sources for society and culture material, though. Perhaps it could be a separate section for society and culture or else placed elsewhere. As it is stating a fact about a particular researcher's estimate, it's not much of a medical claim, but is about how the researcher arrived at her figure. I am probably not going to pursue this much further, though. Crossroads -talk- 03:34, 12 October 2020 (UTC)


 * I'm still not sure I fully understand Maxim's objection. Fausto-Sterling's estimates (which seem to have to do with a perspective that has been admitted to be tongue in cheek), are cited in scientific publications (by people who really ought to know better). See Daphna Joel's "3G sex" and 'intersex brain' (she cites Fausto-Serling in many pubs). 'Intersex' itself is a vague word, but the 1.7% figure is cited in many places (by Joel and in organizations the claim to advocate for intersex people). The focus of such organizations generally center around the removal of stigma, consent around surgery and ceasing deception by doctors. Sax's claim (which is quite credible and supported by prevalence numbers for many of these conditions) about LOCAH should be here since it is relevant to critically assessing the claims by other scientific publications and organizational claims. Maneesh (talk) 06:34, 12 October 2020 (UTC)
 * I should also add I think that none of the publications found on this page that discuss LOCAH in detail describe it as an intersex condition, the idea that LOCAH is not an intersex condition is not some some fringe opinion held by Sax. Maneesh (talk) 08:23, 12 October 2020 (UTC)


 * Thank you for your thoughts on this issue. Did I understand correctly that you wish to emphasize the figures of 88% and 1.7% (e.g. in order for people who use a search engine will land on this article?? Not sure what respectful Wikipedia editors like may think about arguments that me or you laid out in this discussion, but I have an alternative proposal (to the short-version of " "). We can put with figures with appropriate explanation and in an appropriate section. I propose to make a section with the text like like below. Just also add somewhere in this text that the figures of 88% and 1.7% are often quoted, and give examples on where are they quoted. Also make an appropriate name for this section.

"Anne Fausto-Sterling in 2009(?) came up with an idea that LOCAH is in intersex condition because of deviations at the hormonal level. This view did not gain acceptance by the U.S. Endocrine Society, was not found in subsequent clinical practice guidelines issued by the society as of 2020, and is explicitly opposed by Leonard Sax states who state that, from the clinitian's perspective, LOCAH is not an intersex condition, because hormonal imbalances in LOCAH are very mild and not enough to qualify for intersex definition. According to WHO, https://www.who.int/genomics/gender/en/index1.html Intersex is defined as a congenital anomaly of the reproductive and sexual system.

https://www.who.int/gender-equity-rights/news/20170227-health-and-sexual-diversity-faq.pdf Intersex people are born with physical or biological sex characteristics (including sexual anatomy, reproductive organs and/or chromosomal patterns) that do not ft the traditional definitions of male or female.

Leonard Sax argues that in LOCAH there is no genital ambiguity, women with LOCAH found mild clitoromegaly in only 10%; moderate or severe clitoromegaly was not reported Many women with LOCAH are asymptomatic, while the chief complaints of symptomatic women were one or more of the following: oligomenorrhea, hirsutism, infertility, or acne.

A 2020 review found that 90% of women with LOCAH never receive a diagnosis. Once they start trying to conceive, roughly 83% of women with known LOCAH become pregnant within 1 year, with or without glucocorticoid therapy. (PMID 32966723)"

- Maxim Masiutin

---14:33, 12 October 2020 (UTC)
 * An additional section seems like an undue amount of space, I don' think this article should get too mired in the debate about what intersex means. The way I think about it is: it is notable that LOCAH is considered the major category of intersex people according to Fausto-Stirling's definitions which are widely used and cited. It is also notable that LOCAH is not an intersex condition from the clinician's perspective and this article is (appropriately) written from a very clinical perspective. Paraphrasing Sax's sentence (which addresses the point directly) briefly in the article makes more sense to me; and I don't think it needs to be attributed to him (i.e. 'Sax says...') in text since none of the clinical sources in the article refer to LOCAH and intersex.  It can be hard to find sources that confirm that X is not a Y when it is so implicit as it is in this case, the Sax sentence makes it easy to say so. Maneesh (talk) 17:54, 12 October 2020 (UTC)
 * Thank you, ! Can you write this as you said above, and I'd be grateful! Just make sure that the new version it won't legitimize an unsupported theory, as it is now. ---17:58, 12 October 2020 (UTC)
 * I've made an attempt, please let me know if the way it is written addresses your objections. Maneesh (talk) 17:04, 13 October 2020 (UTC)
 * Thank you for your references. I have reviewed them and found only the rate of 1.7% there, but did not find the rate of 88% that you gave. Hence, I propose to not mention this 88% on Wikipedia. We can just leave "1.7%" rate as an example of a "person holding a minority view", a view not shared by most clinicians. However, the figure of "88%" is a result of application by Leonard Sax (who holds majority view of clinicians) of the Anne Fausto-Sterling's theory. Thus, the "88%" is just an argument, not a substance, and should not be cited to avoid misunderstanding and to comply to https://en.wikipedia.org/wiki/Wikipedia:Manual_of_Style/Medicine-related_articles#Citing_sources . Thus I propose the following text: "Anne Fausto-Sterling came up with an estimated 1.7% prevalence rate of intersex individuals, and included LOCAH as one of the intersex conditions. This rate is cited by a number of prominent intersex advocacy organizations. However, from the clinicians' perspective, LOCAH is not an intersex condition. This argument is used by Leonard Sax who disputes this rate." ---Maxim Masiutin (talk) 11:45, 15 October 2020 (UTC)
 * I also support the idea of Crossroads to put it into a separate section. Wikipedia article on health condition should reflect the consensus of most clinicians and should not intermix figures of minority view among clinitians with other figures. Minority view can be discussed in a separate section of the medical article of Wikipedia, even though the rate of 1.7% can represent a majority view of intersex advocacy groups. ---Maxim Masiutin (talk) 11:50, 15 October 2020 (UTC)

I don't understand why you consider Sax a good enough source to cite that clinicians don't consider LOCAH to be intersex, but not good enough to say that 88% of the 1.7% is made up of LOCAH. Even with WP:In-text attribution for the latter. What is controversial about the 88%? If we're going to mention that 1.7% figure we have to mention the proportion of it that is LOCAH - that's the entire point of mentioning it here at the LOCAH article. Crossroads -talk- 16:46, 15 October 2020 (UTC)
 * I don't say that "Sax a good enough source to cite that clinicians don't consider LOCAH to be intersex". I mean that Sax expresses explicitly the opinion that clinicians don't consider LOCAH to be intersex. Otherwise, it is implicitly implied. There are no clinical practice guidelines or documents that express the consensus of clinicians that would have stated that LOCAH is intersex. Since clinical practice guidelines do not mention that LOCAH is intersex, it is not. Maneesh have already expressed this above (quote): "It can be hard to find sources that confirm that X is not a Y when it is so implicit as it is in this case, the Sax sentence makes it easy to say so". That's why the figure of "88%" does not make sense in Wikipedia: (1) This figure is given by Sax to demonstrate the absurdness of the theory of Anne Fausto-Sterling. (2) This figure is not found in the three of the sources of the intersex advocacy groups given by Maneesh. ---Maxim Masiutin (talk) 19:31, 15 October 2020 (UTC)
 * I think I see the crux of the issue now: because the 88% number is does not come from clinical sources it should not be cited, correct? A broad set of research articles and organizations, that are not necessarily clinical, do cite the 1.7% estimate and directly imply that LOCAH is an intersex condition.  Some articles do not cite the estimate but do include LOCAH as intersex as they do in this recent survey.  I think the information in the article should focus on LOCAH's status as an intersex condition, it is considered as one explicitly in some cases and implicitly (but in a very direct way) in others; it is not considered as one clinically and the Sax reference summarizes this whole idea quite well.  I obviously think that the 'clinical position' is far far more relevant and 'real' here but still important to cover and somehow resolve what is being claimed about LOCAH from other sources. You have to mention the 88% number in some way so you can say 'yes some people say something like that but LOCAH is not considered an intersex condition clinically which has some more weight here'. The Sax article is the best source for this since I haven't read anyone else spell it out so clearly anywhere else. I've read what I've written in the article carefully trying to see if I am somehow giving legitimacy to Fausto-Sterling's (very absurd IMHO) position and I don't see that I am. Maneesh (talk) 20:55, 15 October 2020 (UTC)
 * How should we proceed? ---Maxim Masiutin (talk) 12:19, 16 October 2020 (UTC)
 * Maybe just a tiny bit more to see if we can come to consensus? I think the Sax publication is all that is needed for this.  Quote from Sax "Fausto-Sterling asserts that 1.7% of human births are intersex. This figure was widely quoted in the aftermath of the book’s publication." (see the NEJM quote that follows). This supports the idea that the figure has some prominence. It is also easy to find publications, not specifically from the clinical perspective of LOCAH, that cite that number.  The Fausto-Sterling claim is cited by Human Rights Australia (which writes some pretty vague and dubious reasoning about Sax), and here and this book on statistics.  I think it is clear that Fausto-Sterling's number, that LOCAH is 1.5/1.7% of intersex is out there in published works. Embraced by some, criticized by others. Is that agreeable? Maneesh (talk) 22:46, 16 October 2020 (UTC)
 * Stopping by here again..., you want to implement what you have in mind here so we can get rid of the tags, and we can see if that works? Crossroads -talk- 04:27, 30 October 2020 (UTC)
 * Done. Maneesh (talk) 17:32, 30 October 2020 (UTC)
 * Thank you, I now like how it became with https://en.wikipedia.org/w/index.php?title=Late_onset_congenital_adrenal_hyperplasia&oldid=986258372 — Preceding unsigned comment added by Maxim Masiutin (talk • contribs)
 * Very good, glad this worked out. Crossroads -talk- 21:18, 30 October 2020 (UTC)

frequency by sex?
Does this syndrome occur in men as frequently as in women? Maybe I missed it, but that's my read from the page. If so, then a 2% incidence in general means a 1% incidence of an "intersex" condition, that is, a woman with this mutation. I've seen this condition described as "nondimorphic" with an incidence of 1.5%. Thanks. Jonathan Tweet (talk) 16:03, 1 August 2021 (UTC)


 * Do you have any sources on statistics for this disorder?CycoMa (talk) 16:37, 1 August 2021 (UTC)
 * The condition mainly presents in females as males are usually asymptomatic. Prevalence estimated by genetic methods don't diagnose based on symptoms and report prevalence estimates in the general population (since the genetic mutations are not sex linked). I think the article and the sources that it relies on talk about this accurately. Maneesh (talk) 17:55, 1 August 2021 (UTC)

"Clinician's perspective"
"Leonard Sax, an American psychologist and a family physician, criticized these figures in a review published in 2002 in The Journal of Sex Research, stating that from the clinician's perspective, LOCAH is not an intersex condition"

Clinicians do not use the term "intersex", they use DSD. With that in mind, the focus on what clinicians recognise as "intersex" does not make sense. 31.94.34.221 (talk) 21:50, 14 February 2024 (UTC)