Biology of DSDs (6) Swyer Syndrome
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- Опубліковано 8 вер 2024
- Swyer syndrome, also known as Complete Gonadal Dysgenesis, is a sex development condition which affects individuals with a 46,XY karyotype. Because there is no testicular tissue to produce anti-Mullerian hormone and testosterone, individuals with Swyer develop female reproductive structures.
If you want to help improve medical research and psychological support for individuals with these conditions, you can donate to DSDFamilies (dsdfamilies.or....
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References and additional reading:
[1] NIH. (2020). Swyer syndrome. Genetics Home Reference, National Library of Medicine.
[2] Jones, R., Lopez, K. (2014). Chapter 5: Sexual differentiation. Human Reproductive Biology, 4th edition. Elsevier. 95.
[3] LOCAH. (2018). The intersex masterpost. Medium.
[4] NIH. (2020). Swyer syndrome. Genetic and Rare Diseases Information Center.
[5] Azidah, AK. (2013). Swyer syndrome in a woman with 46,XY gonadal dysgenesis. Malaysian Family Physician, 8(2).
[6] Bagci, G., et al. (2011). Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters. Amer Soc Repro Med.
[7] Michala, L., et al. (2008). Swyer syndrome, presentation and outcomes. Journal of Obstetrics and Gynecology, 115(6).
[8] Nollman, J. (2013). An intersex story from X to Y. AIS DSD Support Group.
[9] Taneja, J., et al. (2016). Rare successful pregnancy in a patient with Swyer Syndrome.
In my case, I had other medical conditions that my doctors assumed were the cause of my absent periods, and so I wasn't diagnosed until I developed ovarian dysgerminoma as an adult. None of the specialists I saw afterward did as good a job of laying everything out as neatly and clearly as this video does. This work is a great public service.
Hi ttintagel. I have Swyer Syndrome and run a global online support group. Feel free to message me!
thanks for a purely scientific explanation of these developments
Be careful it’s isn’t fully scientific they are male with genetic abnormalities/mutations on the Y chromosome. They do not poses the same capacity as an XX female. That part of the video is indeed incorrect and usually those with a political agenda tend to muddy the waters in science by calling those who have to female. They may be female from a societal view but aren’t genetically and certainly not biologically XX female with the same reproductive capacity.
Except it wasn’t purely scientific.
Example #1. @ 3:13 in video:
“thus those with Swyer’s syndrome are females.”
False. They are male… despite having extremely rare mutations that make parts of them appear female.
#2. 5:31: “Doctors & patients have a moral obligation…” This is clearly an ethical, not scientific opinion- and while I happen to agree with the opinion expressed, it’s not purely scientific.
#3. 5:43 “the most critical part of informing a Swyer’s patient is that she understands she is a healthy woman, like her xx counterparts…” False again. Scientifically speaking, a Swyer’s patient is a sexually malformed and thus “unhealthy” male. They are not “just like” their xx female counterparts” for many reasons, some of which include: they don’t have ovaries, they need life long HRT, they do not have female gametes & they cannot reproduce.
All of that said, in my opinion people w/ Swyer’s deserve to continue living as girls/women, & deserve all the love, support, treatment & insurance coverage. I would never call them a “he” or try to exclude them from anything.
@@brandybiscoff9685okay I’m glad I came by you. Every source that I look up says that somebody with swyer syndrome has a vagina, uterus, and Fallopian tubes instead of a penis and scrotum. Can you explain that maybe disprove that or give your thoughts?
@@brandybiscoff9685 Swyers can carry pregnancy and give birth which makes them female.
@@brandybiscoff9685 While I agree with you that they are to be considered as biological males, the conflict arises when they can get pregnant with an external egg implantation.. We can't say males can get pregnant and we can't say females have XY chromosomes either, so what do we do?
I’m learning because of the 2024 Olympics. The women’s boxer from Algeria couldn’t compete in 2023 due to chromosome test. A lot of people think it’s a man whose transition. I assumed that based off what I heard this is the case? I’m a feminist and believe women should be protected. All women. Even the ones who are outliers.
The problem here is the Olympic boxer heavily resembles a male physically, is confirmed to have XY chromosomes, and reportedly may have high testosterone. People with swyers can not go through puberty, and thus would not resemble an adult male or have high testosterone. They are almost always given female hormones, and would therefore physically resemble a woman as an adult. Meaning, that person would have to be taking external testosterone, which is not permitted, or has a different genetic condition, which is more likely.
If I were to guess, that athlete would have 5-ard, and not Swyer syndrome.
@@JVbunkitarLook at Carini’s cheekbones and jawline without her makeup. It’s easy to make assumption. Who are we to tell someone born with female genitalia they are not women? In ancient times she would be married and think she’s infertile and not realising she’s got swyer syndrome.
That is a man, he doesn't have swyer.
@@JVbunkitar Yes 5-ARD is the most likely condition, which is XY genetic male with abnormal genitalia and internal testes. Basically a man with penis absence or malformation. Another possibility is PAIS, which is very similar, but is also a XY male DSD.
since i am suffering from this i can tell...it hurts to be one
Same 🫶🏼❤️🩹
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Do you guys actually adhere to the gender identity ideology because of your condition ?
@@Scratchy8644 like people without any DSD conditions, some do and some do not.
Hi! Really interesting video.
I have a question. In the Olympics of 2016, 3 female runners (Caster Semenya between them) with 46,XY karyotype were disqualified because they had a big amount of testosterones levels. How is that possible if they dont have testicles?
I just asked a similar question... Semenya has undescendent testicles and, it seems, has fathered a child?
Because they are male. XY is male anything else is either an extra chromosome or genetic abnormalities. Like this syndrome they are male with genetic abnormalities. Which doesn’t make them female.
Semenya's wife has carried two babies, but - as far as I'm aware, correct me if I'm wrong - there's no public information about whether or not they used fertility treatments. I wouldn't conclude from that alone that Semenya has functional testicles.
Caster Semenya was born with a vagina but is a genetic male and has an intersex condition known as "5a reductase deficiency. Caster looks like a typical male because during puberty testosterone level rises leading to virilization and the development of some male secondary.
Caster is a intersex genetic male with a vagina.
@@mollytaylor2122 No, Caster is an intersex genetic male with a vagina, but will never produce sperm. However, Caster will produce male levels of testosterone
They aren’t “female” they are genetically male with an XY chromosome makeup but due to genetic abnormalities their male characteristics don’t develop. It’s incorrect to label them female as they don’t poses the same development as a biological human female nor the same chromosome makeup.
The more accurate definition is indeed a male with Y chromosome abnormalities that either halted and or hindered male sex characteristics and or promoted female sex characteristics.
To put it in simple terms they are male XY but at birth labeled as female due to visual confirmation of female sex characteristics and thus tend to live as a female and present as a female but do not fully poses the biological abilities of a actual XX human female.
They may present and Identify knowingly or unknowingly as female even if they eventually find out about their condition. However, the reality is they are indeed XY Males with genetic mutations on the Y chromosome which causes them to take on female sex characteristics.
the Y chromosomes make the cascade of genetic differences towards forming a male when the SRY gen its active. otherwise the processes don´t happen. a normal Y chromosome makes someone a male. this Y chromosome its mutated, so, its a malformed chromosome, so no, not male.
The most reasonable position to label swyers syndrome is that they are technically both. they have XY chromosomes but because they weren’t born with SRY/AR gene they develop a mostly female pathway. but they don’t develop ovaries due to them having XY chromosomes so they have to take HRT, which induces female puberty (and prevents osteoporosis that they are at a high risk of if they don’t take it) such as menstruation and pregnancy, however they can’t get pregnant with their own genetic material they can however get pregnant through donor eggs. they aren’t fully female or male. they are both and fit the definition of carrying the genes of both sexes.
They have male bone structure and female organs is this true?
@@Ophanim1000 No they don’t have male bone structure , they have a female phenotype because of the lack of SRY gene
Exactly. The author is trying to be kind, but that's what i get from this. It's a defective y chromosome so the man doesn't develop as a man, but instead develops as a woman.
This was a very good video. I thought it was well researched and informative.
Why are they so masculine physically, as in Olympic competitors? They seem to have a definite physical advantage over ordinary women
Why do you say they are women? They have XY chromosomes. In your earlier video, you make no hesitation that XY is male despite mutations. 45XO is female. 47XXY is male. This is XY with a mutation on the Y chromosome.
because no male structure develops
XY is not -always- male, it is -typically- male.
The general rule in biology is that every rule can be broken.
@@Quiestre it doesn't matter. They are still XY. Ovaries don't develop, either. 200 years from now when their DNA is examined, the result will be male.
Is the Y chromosome dysfunctional in all cases of Swyer Syndrome? How does the Y chromosome influence the genes and body structure of Swyer people?
It prevents the formation of the eggs and female gametes I believe
@@thunderspark1536 neither testes or ovaries are developed in swyers.
@@Gingerblaze100% of the time?
4:48, how can HRT induce mensturation if the gonads do not work?
Hrt replaces the estrogen and progesterone that would have been produced by missing female gonads.
I have a silly question - if the karyotype is XY, aren’t they biologically males?
No, because, as he said, the SRY gene (found only on the short arm of the Y chromosome) is inactive and not functional hence not resulting in the formation of reproductive anatomy typical of people with functional SRY gene i.e., males.
Just a further elaboration: Since the male gonad isn’t developed despite the karyotype being XY, the phenotype (which includes internal and external reproductive structure) is that of the female. However, CAIS syndrome is an exceptional case. In CAIS, the “outwardly woman” has XY chromosomes that also result in the development of testies since the SRY gene is active. Judging by the criteria that gametes and gonads determine sex, such an “outwardly woman” is a male.
the Y chromosome makes a human male when the SRY gen its active. this syndrome inactivates it.
A normal Y chromosome makes someone a male.
@@ThatFuckinGameexception is CAIS where due to lack of androgen receptors they develop as females
@@birdoflaments You have it wrong in CAIS the SRY male gene is present however, because these genetic males can't respond to androgen male hormone they won't develop as male. They will have a vagina but no other female reproductive organs and undescended testes in the abdomen or pelvic.
Sex is primarily determined by the chromosomes but not always, genes on the chromosomes play a crucial role in sex development or the pathway in which one will develop as male, female or intersex.
Have you thought about making the video on Nature's "Sex Redefined" article from 2015?
Indeed, a response to Nature's 'Sex Redefined' is in the list for future videos :)
@@ParadoxInstitute can you make a video about people with xx chromesome but the sry gene is active in one of them
It’s not redefined though. Those with Swyer are male but suffer from genetic abnormalities. This is a persistent error found in many articles and videos about this typically because they source from those without a complete understanding of it or a politically motivated agenda.
Excellent
Yea
Very good video 👏
"Almost always infertile" can some of them be fertile like other normal females ?
They can get pregnant via egg donor since they have a uterus.
@@kaching77but that's technically still infertile, isn't it?
Can a Swyer Syndrome person give virginal birth or only C section ,are their hips more narrow ?
@@4651adri You’re correct. Just explaining how they can still conceive and give birth.
@@erikkopsala3564 They can still give birth naturally but very rare. Their uterus is smaller than usual so caesarean for a premature born baby is the more likely case.
ON SPORTS AND DIMORPHIC GAMETES
By classifying XYs with Swyer syndrome as female, this otherwise excellent video in my view serves to prolong the confusion and individual pain (emotional and, in boxing, perhaps, physical).There are at least three categories: small motile gametes (male); large sessile gametes (female); no gametes (neither male nor female). A fourth category for "small motile and large sessile gametes" (both male and female) is unlikely to ever be needed, but is logically available and could be added should gonadal chimerism or some other form of DSD render that necessary.
Since people with Swyer Syndrome (say, streak gonads and vaginas) typically do not produce gametes, then it seems clear to me that, at least for the purposes of evolutionary biology, they are neither male nor female. I can imagine an alternative Olympics, complete with TV coverage, for such people, organised along the lines of (and perhaps concurrently with) the Special Olympics and the Paralympics.
I say this without specific reference to the Algerian boxer who won a gold medal for boxing at the 2024 Olympics. I add that qualification because I do not currently have complete knowledge of that socially female boxer's personal biology.
If there were a God, you are doing God's work.
So is it Female or male what defines it? Does the chromosom define it male even if it has functional female genitalia , looks and structures including a vagina, uterus and fallopian tubes.
Female because of the genetically determined phenotype: the fetus developed structures directly involved in the transportation of eggs and reception of sperm.
@@ParadoxInstitutebut they have a xy gene. Doesn’t this go against your sex is binary since this implies you can be xy and female
@@megamillion2461 Females can have XY chromosomes due to mutations in the initiator gene of male development. Swyer Syndrome is caused from a mutation in the SRY gene that causes it to be inactive and dysfunctional.
Just like individuals with cais, people with swyer syndrome would have been normal males if they didn’t have the syndrome .
This is the issue I take with this ideology. It focuses too much on determination and not enough on differentiation. Why do you care about what someone “would have been” rather than what they are?
@@ellewilliams5162 people say what always biologically happens absent the abnormality (what would have been) because transgender advocates commonly use rare chromosomal abnormalities and developmental disorders to claim that there are three or more sexes when there aren’t. And even if there were more than 2 sexes (which there again aren’t) rare abnormalities have nothing to do with transgenderism and in no way suggest that someone’s subjective discomfort with his/her sex means that he/her is or can become another sex
@@pearlpearl3806 separating sexual biology like phenotype from the category of sex makes no sense? For trans people who medically transition their sexual biology changes, so how do you explain this? Sex hormones are a primary sex characteristic after all
@@ellewilliams5162 transgender people’s sex doesn’t change. I have no idea what would lead you to think it does
@@pearlpearl3806 their sex characteristics literally change?
What else do you call developing secondary sex characteristics of the other sex?
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🤍🤍🤍🤍🤍🤍🤍
The embryo already has developed female external genitalia even before any differentiation occurs. We all were female phenotype once.
No. Being phenotypically undifferentiated does not equate to "being female".