True hermaphroditism

What it means

The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism.

In true hermaphroditism, the testicular tissue must have well developed seminiferous tubules, and the ovarian tissue primordial follicles. The external genitalia are usually associated with variable degrees of sexual ambiguity, depending on the amount of functioning testicular tissue. Internally, a uterus is almost always present, but the development of Mullerian and Wolffian structures is variable and generally depends on the adjacent gonad. Usually there is a vas deferens on the side of the testis, and a Fallopian tube on the side of the ovary. Both types of ducts can occur next to an ovotestis. An ovotestis is the most common gonad found in true hermaphroditism and can be coded with HP:0012861.

Rare diseases that can present with this4

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Testicular and ovarian tissue present