I have XY chromosomes, but I am a female who menstruates, has a vagina and has a uterus?
Hi there,
I (26 F) had a karyotype done because an ancestry test showed xy chromosomes and I got confirmation that I am indeed 46,XY. Although, how could this have happened? I am a normal female and I went through female puberty and even menstruate? Having XY chromosomes isn’t a big deal for me, but they even did whole genome sequencing and found no mutations. How could this have happened?! They took multiple samples because they suspected mosaicism but they all turned up 46,XY. My current diagnosis is swyer syndrome but they admit it doesn’t fit well because I have functioning ovaries with follicles and presumably ovulation. I was born female and raised as a female and as far as my doctors can tell, I am a normal woman other than the fact I am a bit tall compared to my xx relatives.