Ovotesticular Disorder of Sexual Development (OT-DSD) is the rarest of the disorders of sexual development.
Former name: true hermaphroditism
Features:
(1) presence of both ovarian and testicular tissues
(2) ambiguous genitalia
(3) breast development during adolescence
(4) variable hypospadias
(5) variable risk of gonadal tumor (risk of malignancy is about 3%)
(6) variable virilization at puberty
(7) variable presence of a uterus. If present it is often malformed.
(8) variable azoospermia or hypospermia
Diagnosis is made independent of the karyotype which may be XX, XY, chimera or mosaic.
Most patients are diagnosed while neonates but about 10% have nearly normal male genitalia and are not diagnosed until adolescence or later.
The gonadal tissue may take the form of:
(1) an ovotestis (both in one organ)
(2) a testis on one side and ovary on the other
(3) an ovotestis on one side and an ovary on the other
The gonadal tissue may be in the normal location or ectopic, often in the inguinal canal.
