45,X/46,XY Mosaicism

45,X/46,XY Mosaicism or Mixed Gonadal Dysgenesis is a rare intersex trait 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. Symptoms typically include short stature and low testosterone levels in those assigned male at birth. Those with 45,X/46,XY Mosaicism are typically born with male genitalia or ambiguous genitalia, though occasionally are born with female genitalia. They can have any internal sex organs, though asymmetrical gonads and other structures are common.

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

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