34th European Congress of Pathology, Basel, Switzerland, 03 September 2022, vol.481, no.481
Background & objectives: Ovotesticular disorder is defined as the
presence of both ovaries and testes in the same person, regardless of
karyotype. Patients with ovotesticular disorder have a higher risk of
developing gonadal neoplasms such as gonadoblastoma or seminoma
than the general population.
Methods: The karyotype analysis of a 32-year-old male patient
with phenotype who was examined for bilateral abdominal undescended
testis was 46 XY. In his radiological examination, a
complex internal genital structure compatible with ovotestis was
detected. The patient whose operation material was examined in
our unit is presented with histopathological and clinical features.
Results: Macroscopically, the specimen consisted of bilobed gonadal
structures and a single cordial structure adjacent to it. In the histopathological
examination, in addition to seminoma, tissues including vesicle
seminalis, atrophic testis, tuba uterina, endometrium and endocervix
component were seen. Most of the structures thought to belong to the
female genital tract were not of the usual morphology, possibly due to
insufficient hormonal effect. Immunohistochemical markers contributed
greatly to the distinction of the organs and diagnosis. The patient,
who was diagnosed with ovotestis and Stage I seminoma based on
histopathological findings, received a single dose of carboplatin chemotherapy
and free of disease at 6th month of follow-up.
Conclusion: Ovostesticular disorder is a very rare sex developmental
disorder, with a 10% risk of germ cell tumour development
in 46XY and mosaicism cases.
As a result, orchiectomy is required in the presence of an undescended
testis or development of a tumour. Because male and
female genital organs have similar morphological and immunohistochemical
features, a multidisciplinary approach is required
for pathological examination.