45,X/46,XY Mosaicism

45,X/46,XY Mosaicism or Mixed Gonadal Dysgenesis is a rare intersex variation affecting 1 in 15,000 people. It is a chromosomal condition where some of one's cells have an X chromosome and some have XY chromosomes. Each case is different depending on the exact location and amount of X cells and XY cells in one's body.

For those with this variation who are CTM, they are typically shorter than usual with a low output of testosterone, and typically have a micropenis (though they may have a common penis as well.)

For those with this variation who are CTF are typically born with vaginal aplasia, an enlarged clitoris, and may have only a single vaginal hole that connects both urinal output and sexual output. Both CTM and CTF individuals with this variaton tend to have ambiguous genitals as well.

They can have any internal sex organs, though asymmetrical gonads and other structures are common. Depending on how the gonads develop, the output of estrogen and testosterone may vary, however it is common that those with this variation tend to have a masculine puberty, making CTF individuals with this variation possibly also have hyperandrogenism.

It is important to note that not all the symptoms listed above are guaranteed to occur in someone with this variation, as someone may only experience one or several of these symptoms, yet still hold the variation.

History
The earliest mention of Mixed Gonadal Dysgenesis appears to have been in 1992, with Richard E. Behrman in the 14th edition of the Nelson textbook of Pediatrics.

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