The boy who always knew he was a girl, and is now a woman

submitted by Kally from google.com

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[–]GConly 12 insightful - 4 fun12 insightful - 3 fun13 insightful - 4 fun -  (11 children)

Summary: Boy with Klinefelters actually has physical intersex traits.

This is not normal for Klinefelters though. Most don't get spotted until they can't father kids as adults.

He probably has some mosaicism that means his testes aren't working close to properly. Most do, they are just a bit less effective.

I'd like to add I've seen a shit load of cases of TIMs claiming to be intersex, that turned out to be balls. The best known example is Yaniv, but one got in front of some UK politicians to weep over the injustice about being put into a men's prison after he was mistaken for a man, as he was in fact a female with intersex traits...

Turns out he was a normal guy who'd fathered several children and was lying his silicone tits off about being intersex.

[–]Kally[S] 1 insightful - 1 fun1 insightful - 0 fun2 insightful - 1 fun -  (10 children)

Should we also consider individuals with AIS or CAIS male too due to their chromosomes?

[–]MarkTwainiac 10 insightful - 1 fun10 insightful - 0 fun11 insightful - 1 fun -  (0 children)

Should we also consider individuals with AIS or CAIS male too due to their chromosomes?

It's best not to lump together CAIS and AIS as one.

The genitals of individuals with Partial Androgen Insensitivity (PAIS) vary widely depending on the amount of androgen insensitivity and its cause(s) in each case. Medical textbooks and papers say that the majority of individuals with PAIS that becomes evident early in life have genitals that either appear ambiguous at birth based solely on visual inspection - such as a scrotum that appears to be a fused labia, and a penis that looks like an enlarged clitoris - or are clearly male but improperly developed and "under masculinized" - eg with very small penises and hypospadias.

On the other hand, a large number of individuals with PAIS apparently have normal-looking male genitals at birth and only discover they have AIS later in life, often when they're found to be infertile.

But even if a person with PAIS has a more severe form of it and thus at birth appears to have a vulva, such individuals do not necessarily have vaginas. If the androgen insensitivity is more severe and thus closer to CAIS (complete androgen insensitivity) than to MAIS (mild androgen insensitivity), they might have vaginal "introitus" - meaning what appears to be the entrance or lower portion of a vagina - as well as a urethral opening that looks more typical of females than males.

https://rarediseases.org/rare-diseases/androgen-insensitivity-syndrome-partial/

Also, it's important to note that whilst individuals with CAIS have vulvas with "normal" labia, clitoris and urethra, their vaginas are "blind" and tend to be much shorter than vaginas are typically. In one study of 25 individuals with CAIS, a majority - 14 - had vaginas between 2.5 and 4 cm (just under 1 inch to 1.6 inches) in depth. People with CAIS are typically said in medical parlance to have vaginal hypoplasia (underdevelopment) or agenesis (failure to develop in utero due to lack of primordial tissue) that results in an absent "proximal" vagina along with a highly variable portion of a "distal" vagina.

As a result, in individuals with CAIS who want to be able to have penetrative vaginal sex without difficulty and pain, dilation to lengthen the vagina is often required. Moreover, historically many individuals have undergone various forms of vaginoplasty at some point in their lives - and in the evaluation of physicians, 56% of CAIS patients will "eventually require surgical interventions for for augmentation of a hypoplastic vagina."

However, long-term follow-up with CAIS patients suggests that sexual function/satisfaction is actually greater in those who do not have surgical interventions, and now greater emphasis is being placed on dilation and non-surgical techniques to achieve lengthening. Nowadays, "Vaginal dilatation to augment vaginal length and to avoid dyspareunia (painful intercourse) is typically the treatment of choice for those with short vaginal length" due to CAIS and other DSDs.

I am sharing these details about the genitals and vaginas of individuals with CAIS and other forms of AIS not out of prurience, but to make it clear that these are complex medical conditions that vary widely in their manifestation and shouldn't be lumped together as one. The more informed the world becomes about these rare and specific medical conditions, the better off the people who have them will be.

https://www.researchgate.net/publication/267911939_Long_Term_Follow_up_and_Sexual_Function_in_CAIS_Patients_with_and_without_Vaginal_Reconstructive_Surgery

https://www.ncbi.nlm.nih.gov/books/NBK1429/#androgen.Clinical_Description

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3593621/

[–]lefterfield 4 insightful - 1 fun4 insightful - 0 fun5 insightful - 1 fun -  (8 children)

They are genitally male women.

[–]GConly 7 insightful - 1 fun7 insightful - 0 fun8 insightful - 1 fun -  (1 child)

Gonad-ally.

Externally they present as normal females (so vagina) and will put up with same level of crap as the rest of us.

[–]lefterfield 3 insightful - 1 fun3 insightful - 0 fun4 insightful - 1 fun -  (0 children)

Exactly, well said.

[–]Kally[S] 2 insightful - 1 fun2 insightful - 0 fun3 insightful - 1 fun -  (5 children)

Would you mind elaborating on that?

[–]lefterfield 7 insightful - 1 fun7 insightful - 0 fun8 insightful - 1 fun -  (4 children)

To quote GConly,

Externally they present as normal females (so vagina) and will put up with same level of crap as the rest of us.

But they have XY chromosomes, which are genetic markers of men. That has some real-world implications for their lives, but most of those issues are invisible from society. So, they are genetically male, without any of the external characteristics(mostly) or development patterns of men. This is perhaps the only case where 'socially women' applies.

[–]SweetBabyCheeses 2 insightful - 1 fun2 insightful - 0 fun3 insightful - 1 fun -  (3 children)

Is that correct? I only know about this from researching Caster Semenya (and the two other individuals who shared the Olympic podium with her). I believe that he is genetically a male, hormonally a male, is physiologically clearly a male, was raised as a baby girl due to undeveloped external genitalia, internal testes not ovaries, but now identifies as a man (or a butch lesbian but that’s not really safe in South Africa). Having a micro penis does not mean he has a vagina.

[–]lefterfield 3 insightful - 1 fun3 insightful - 0 fun4 insightful - 1 fun -  (2 children)

That's true for women with AIS/CAIS. I forget exactly what Caster Semenya's condition was, but I know it wasn't CAIS. I believe his genitals were deformed in some way, but he developed normally as a man, and was raised as one.

[–]MarkTwainiac 8 insightful - 1 fun8 insightful - 0 fun9 insightful - 1 fun -  (1 child)

Semenya has 5-ARD, a genetic enzyme deficiency that makes it impossible to convert testosterone into its more potent form, dihydrotestosterone or DHT.

In utero, DHT is what causes the male genitalia to develop properly. As a result of not being able to convert T to DHT, males with 5-ARD are born with external genitals that appear atypical upon visual inspection - though the extent of the atypicality can vary widely, just as with PAIS.

Some males with 5-ARD have micro penises that get mistaken for enlarged clits; some have scrotal skin that looks like (typically fused) labia; some have shallow, blind pouches of skin that go inside the groin and which upon first glance often appear or are assumed to be vaginal openings - and in these latter cases, the urethra often opens up into these skin pouches, giving the appearance that affected persons "pee from their vaginas." This feat of "peeing from the vagina" is often taken as proof that males with 5-ARD really are females, and since childhood Semenya has used it as evidence that Semenya must be female - which just goes to show how little most of the people involved in these convos actually know about the genital and urinary anatomy of those who are genuinely female.

5-ARD also occurs in females, but since DHT has no bearing on female development in utero or any other time in life, in females it's not a DSD. It's only a DSD in males.

Males with 5-ARD have normal sensitivity to testosterone and to DHT and other male sex hormones. There's nothing androgen insensitive about Semenya or other males who have the same male-only DSD.

[–]lefterfield 2 insightful - 1 fun2 insightful - 0 fun3 insightful - 1 fun -  (0 children)

Thank you.