46, XY disorders of sexual development
Type of disease: Rare conditions
46, XY disorders of sex development (DSD) is a condition in which individuals 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 may require surgery and hormone replacement therapy. People with 46, XY DSD may require regular surveillance or surgery to remove abnormally developed gonads for risk of gonadal tumors. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.