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We need a test that can tell us if there is a function Sr-Y gene or not. That gene is what initiates the cascade of changes that differentiate males and females in humans. There are adult human females with XY genotype but XX phenotype, including a fully functional female reproductive tract and demonstrated capability to produce offspring. The key is that they lack a functional Sr-Y gene and thus the XY genotype is never expressed. Another gene, upstream of Sr-Y, Chromobox homolog 2 (CBX2), can cause a similar break in the sex determination cascade.
The one other edge case I've heard of involve chimeras, individuals with more than one genotype. Most of their cells will be XX but a few will be XY. If those cells are the "right" ones then they can get a pretty substantial boost in physical performance.
Usually 46,XY women (whether Swyer or CAIS) are infertile. There's one publicized case otherwise, a primarily 46,XY woman who also was chimerical in that some of her cells were 46,XX.
citation? this sounds interesting. I wonder if the person even had androgen insensitivity or if it was just the chimaera blend.
Report of Fertility in a Woman with a Predominantly 46,XY Karyotype in a Family with Multiple Disorders of Sexual Development
Androgen insensitivity seems to be the one thing she didn't have.
That family! Lots of chimerism. Like their embryos are porous and bad at maintaining integrity.
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Must have been chimerical. XY women have no womb, and their 'vagina' is often too small for intercourse.
She was chimerical, but your statement isn't true in general. Women with Swyer syndrome (46,XY complete gonadal dysgenesis) have no (or "streak") ovaries, but they have a womb and indeed can give birth with a donor egg and hormone treatments. They require hormone treatments to go through puberty and thus develop their secondary sex characteristics. CAIS does cause what you describe.
it's about 4-5x more rare than AIS / CAIS though..
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I don’t think that’s *always accurate. Swyer’s syndrome women have uteruses and normal external genitalia, they just have nonfunctional gonads (eg ovaries, or testes). They can get pregnant via egg donation but are otherwise infertile.
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