Talk:5-alpha-reductase deficiency

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discussion of the article[edit]

The book Middlesex, an amazing book, is narrated by Cal who has 5 alpha reductase deficiency and provides a very interesting look at the social ramifications of such a condition. I highly recommend the book, it is very well done. ISBN 0312422156

Edited "testes" to "testicles" for article tone consistency.

Does no one think it appropriate to include the 'Guevodoces'/Dominican Republic information? Varilux 07:31, 3 November 2005 (UTC)

5-alpha reductase deficiency is a syndrome which can be inherited due to inbreeding or genetic founder effects. This is the case for the "guevedoces" (literally testicles at age twelve) in the small town of Salinas, Dominican Republic as well as other isolate communities around the world. It is the impairment of the 5-alpha reductase enzyme which converts the androgen testosterone into its more potent metabolite dihydrotestosterone, or DHT. DHT in utero is responsible for the masculinization of external genitalia and for growth of the prostate gland, as well as some other secondary sexual characteristics, such as acne or beard/facial hair growth. Without 5-alpha reductase, testosterone alone is not potent an androgen enough to fully masculinize the genitalia of an XY individual in utero, resulting in erroneous sexing at birth. At puberty, however, there is a spike in the production of testosterone (as well as other steroid hormones) which bind to the same receptors as that of DHT, which can lead to the sex-altering growth of male muscles, penis, and testes, though usually of subnormal size in the phenotypically female individual.

Would you regulars consider the Quentin bit to be a spoiler?

In my opinion, the book deserves a one sentence allusion in an article like this rather than a synopsis. That serves to alert the reader interested in the topic that the book exists. We have many articles about novels or works of fiction. If you would like to treat the book more fully, make a separate Middlesex article, put in as much detail as you want, and include a spoiler warning like we usually do. My opinion of course. alteripse 23:11, 23 December 2005 (UTC) Oh look, the link turned blue, so we already do have such an article, and that is where I would put details.

Combine with 'Guevedoche'?[edit]

There is an existing page under the spelling 'Guevedoche'. I have cross-referrenced that page with this (and added medical and documentary external links to both) but I think they could be combined.

I agree. Only if the name remains "5-alpha-reductase deficiency" :-). Guevedoche is probably the term used to describe the transition during pubertal virilization (I'll look it up, I remember a translation like 'penis at 12'). The Dominican Republic, also Papua New Guiney, have higher incidences of 5-alpha-reductase deficiency-2, probably caused by higher incidence of consanguinity. ---Chbse
I disagree. Guevedoce is more appropriate to talk about the social side of it, and in particularl the effect in PNG and the dominican republic. Cheers! Lauren/ 00:27, 2 April 2007 (UTC)
I agree with you, but social implications should be considered as subheadings, or chapter, in the whole 5-ARD2 story, not as seperate wiki. Chbse

Reproduction?[edit]

It's generally reported that patients with 5ARD-2 are primarily infertile, due to underdevelopment of seminal vesicles and prostate gland, not to mention the large amount of undescended (non-scrotal) testis found in 2ARD-2 patients (Houk, 2005; Cohen-Kettenis P., 2005). There have been some reports of fathering patients (Grant; 1996, Nordenskjold; 1998, KatzMD; 1997, Ivarsson ;1995), but worldwide there has been little proof of genetic fathering (biological fathers). I'll look up viability of articles (briefly) mentioned above (genitic testing in "fathers" etc.). ---Chbse

Those links would be great to add to the "reproduction" section. Absolutely, they tend to be unable to reproduce without medical intervention. It is tied up in the issue of their gender identity, too; those who identify as "straight women" are unlikely to want to "father" children.
Most IVF techniques are appropriate, assuming the individual hasn't had genital mutilation or gonadectomy due to their intersex status which prevents this.
Cheers! Lauren/ 00:22, 2 April 2007 (UTC)
In western culture, if/when these patients are gonadectomized (mainly because of surpression of virilization and risk of developing malignancies) obviously IVF can oppose some problems ;-). However, also in cases of non-gonadectomized patients, it's really the question if these patients can ejaculate viable sperm, mainly due to underdeveloped vas deferens, seminal vesicles and prostate. Sadly, I haven't heared of any investigation on effects of percutaneous testicular sperm aspiration etc... Chbse
Sperm aspiration has a long history of use in people with Cystic fibrosis, who also have a vas deferens defect. The results are quite sucessful with Intracytoplasmic sperm injection (ICSI). Cheers! Lauren/ 12:40, 21 April 2007 (UTC)
Sperm aspiration still requires viable sperm cells in vivo. Thoughts are that spermatogenesis is critically impaired in most intersex disorders (DSDs). Chbse

See also[edit]

What do you think of adding 17βHSD3 to the "list". Androgen insensitivity has little to do with testosterone biosynthesis... ---Chbse

I assume you mean "17-beta-hydroxysteroid dehydrogenase isoenzyme 3 deficiency"? It can certainly go in the "see also" but is already on the "Intersex" page list. BTW, looking at it, it definately needs a cleanup, don't it?
Cheers! Lauren/ 00:26, 2 April 2007 (UTC)
17-beta-hydroxysteroid dehydrogenase isoenzyme 3 deficiency is often abbreviated to the simpler word 17βHSD3. Will certainly work on that page :-). Greetz Chbse

New Chapter Layout?[edit]

It's easy to just edit, but maybe we can discuss on the layout of chapters in this wiki. For instance, we can combine Gender, 5-ARD in non-western culture and In popular culture to a major chapter "social interactions" or "social characteristics" or something like that. I think it can improve efficiency for reading the page. Chbse

Biochemistry & steroid synthesis[edit]

A collaegue of mine created a picture that shows normal steroid synthesis from cholesterol to dihydrotestosterone (DHT) and gave me permission to use it. I'll work on editing to show the defect on testosterone synthesis in 5αreductase def-2 as well as for 17β-hydrosysteroiddehydrogenesis-3. I've looked up how to upload, but I don't have the time to figure out what type of permission I have etc. Does anybody know if I can just use an outgoing hyperlink and thumbnail, or do I really need to upload to wikipedia? greetingsz Chbse

figured it out. added chapter Biochemistry as well as a supporting image. Greetz Chbse
Nice Nice - I was thinking of a similar one. am working on one for a variety of the intersex pages showing differentiation pathways, but don't hold your breath :) Cheers! Lauren/ 12:39, 21 April 2007 (UTC)
Looking forward to seeing them :-). Good luck! Greets Chbse

2 redirects[edit]

Redirect from "Guevedoche" should really be "Guevedoce" - the former is either a misspelling or is quite rare.

I'd like to propose as well adding a redirect from "Penis-At-12"/"Penis-At-Twelve" - which is a common translation and often-used title for this phenomenon.

Primary amenorrhea[edit]

The articles says that patients "often" suffer from primary amenorrhea. Since they do not have any female internal organs, wouldn't patients ALWAYS suffer from primary amenorrhea? Graymornings 03:13, 7 October 2007 (UTC)

I think the text needs some extending on this. More and more 5ARD patients are currently raised as males (better surgical outcome than 30 years ago, possibly better gender outcome?). Considering amenorrhea, which is a female condition involving ovaries (NOT present in 5ARD), ALL female 5ARD patients suffer from prim. ammenorrhea. Considering the possibility of a present uterus in these patients (rare, often lower portion of the "uterus"), I can imagine estrogen influences (e.g. anticonceptive pills) appearing as mentrual bleeding. Mentrual bleeding is (in my knowledge) not considered as a-menorrhea. These bleedings will always be without an egg cell because there are no ovaries. So summarizing: male 5ARD will most likely be infertile, female 5ARD will most likely have primary amenorrhea. What do you think? Chbse research student of intersexuality and gender identity 08:56, 12 October 2007 (UTC)
Adding to the "often" problem: might suggest that virilisation can be the primary problem. Still needs some refitting though...

research student of intersexuality and gender identity 08:56, 12 October 2007 (UTC)

How does 5αRD affect X-linked genetic disorders?[edit]

This is going off on a tangent here, but I'm curious as to whether Dihydrotestosterone (DHT) plays any known role on disorders such as Color Blindness, Hypertrichosis, or Fragile-X syndrome. The article makes it quite clear that men with 5-Alpha Reductase Deficiency (5αRD) do not experience male-pattern baldness, due to lack of DHT (with its scientifically-established role in baldness.)

I'm curious, though, as to whether any research --and not just speculation-- has been pursued with 5αRD's role in other X-linked diseases. I'm also curious about women with 5αRD. While that is definitely not an intersex condition, I can't help but wonder if any verifiable studies have shown a lack of female-pattern baldness among them.

If so, it could potentially add-in a whole new dimension to the article. Pine (talk) 21:53, 15 August 2008 (UTC)

I don't think a lot of research is done concerning 5αRD, other than sex organ effects (eg. intersex;DSD), but I'll look into it and report back. Chbse 10:16, 18 August 2008 (UTC) —Preceding unsigned comment added by Chbse (talkcontribs)
So far found on 5ARD: "The mutation appears to be silent in women. Homozygous 46,XX subjects with 5-alpha-reductase 2 deficiency are phenotypically normal, and have normal menstruation and normal fertility" src: UpToDate —Preceding unsigned comment added by Chbse (talkcontribs) 16:09, 29 August 2008 (UTC)

Cryptorchidism in patients with 5-Alpha-Reductase Deficiency. [?][edit]

I have several questions concerning people with 5-Alpha-Reductase Deficiency. The wikipedia article says that (in childhood) they are often raised as girls because their external genitals are indistinguishable from those of natal females. At puberty, however, they are identified as boys due to —among other sex characteristics— their clitorises growing into (very small) penises and their testes descending.

My first question deals with the location of said testes in a post-pubertal man with 5aRD: How far below his abdomen are said testes located (vis-á-vis a typical, adult man)? I've tried finding images of people with 5aRD —both men and children— but thus far have come up fruitless.

Also, are patients with 5aRD more likely to develop testicular torsion, cancer, and other maladies as a result of this condition? Or is there some other factor that I'm failing to take into consideration?

May these individuals be benefitting from the action of superficial veins (notably, the Great Sapphenous Vein) providing blood to their testes cooler than arterial or deep-vein blood? Has anybody looked into this? Where may one find articles and pictures of this fascinating condition? Pine (talk) 20:48, 14 April 2010 (UTC)

The XY infants are usually not really "indistinguishable from natal female". Natal female is the wrong term. A better one would simply be normal females: whoever wrote natal did not understand the term. However, in regard to the undervirilized XY infants with 5aRD it would be more accurate to say "the genitalia of XY infants with severe 5aRD are so undervirilized as to appear more female than male at birth and many have been assigned and raised as girls." In families that are familiar with the conditions and to doctors familiar with disorders of sexual development, the infants are recognizable as having an abnormality of genital development.
Next question. The testes are often palpable at the top of the scrotal folds or inguinal canals. This is well below the waist.
There is a mildly increased cancer risk in any man whose testes remain undescended. There are not good long term statistics on whether this risk may be greater or less with 5aRD because the condition is so rare. I doubt torsion is more common but have never heard evidence one way or the other about this.
I do not understand exactly what you mean by benefitting from superficial veins providing cooling. Veins carry blood away from organs. Arteries supply it to organs and arterial blood is usually core temperature as it is flowing faster from deep within the body.
Pictures can be found in the medical literature, but the condition is rare enough that I have never seen a "collection" of pictures showing the range of external appearance as can easily be compiled for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Many pediatric endocrinology and a few general endocrinology texts have single pictures of single individuals. Most of the articles in the medical literature with pictures also had pictures of only one or two individuals in each article. These articles can be found by searching pubmed but you generally cannot tell if an article is illustrated from the pubmed info alone. You would need to look up multiple articles in a good medical library. alteripse (talk) 02:29, 15 April 2010 (UTC)

Original Research[edit]

===Local names=== The term Guevedoche or Guevedoces is Spanish slang for the condition. It originated in the Dominican Republic, where more than three dozen cases have occurred in the small village of Salinas, all descended from a single individual named Altagracia Carrasco. It stands for the colloquial expression huevo a los doce, which translates literally as "eggs at twelve" ("eggs" being a common slang term for "testicles"). It is also known locally as Machihembras (literally "malefemale"). A similar cluster of cases among the Simbari of the Eastern Highlands of Papua New Guinea has the local name Kwolu-aatmwol ("female thing transforming into male thing").

This was moved to the talk page as it violate WP:OR. Please do not return it to the article without proper citations. -- 174.253.9.190 (talk) 20:39, 17 May 2011 (UTC)