This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
A 46, XY disorder of sex development (DSD) is a condition in which an individual with one X chromosome and one Y chromosome in each cell, the pattern normally found in males, have genitalia that is not clearly male or female. Infants with this condition tend to have penoscrotal hypospadias, abnormal development of the testes, and reduced to no sperm production. Some individuals with 46, XY DSD have fully to underdeveloped female reproductive organs (e.g., uterus and fallopian tubes), while others do not. People with with 46, XY DSD may be raised as males or females. Treatment involves surgery and hormone replacement therapy. People with 46, XY DSD are at an increased risk for gonadal tumors and benefit from regular surveillance or surgery to remove abnormally developed gonads.
For more information, visit GARD.