Ovotesticular DSD is a rare condition both ovary and testis are present, sometimes even combined in the same gonad. Previously, the syndrome was referred to as true hermaphroditism. The condition is also associated with a variety of chromosomal combinations, including normal male (46-XY), normal female (46-XX), or a mixture of the two. The physical appearance of the genitalia can be anywhere on the spectrum from normal male to normal female, or somewhere in between.
Gender assignment with Ovotesticular DSD is very individualized. There is potential for fertility, but gonads that do not match the chosen gender can cause hormonal problems and possibly carry a risk of tumor development.
Surgical biopsy of the gonads is usually necessary for diagnosis.
Treatment may include hormonal replacement at puberty. Surgical removal of incompatible gonads or reconstruction may also be considered.