True hermaphroditism with dysgerminoma: A case report

Area of Science:

• Endocrinology
• Oncology
• Genetics

Background:

• True hermaphroditism is a rare disorder characterized by the presence of both ovarian and testicular tissues (ovotestis).
• This condition is typically sporadic and presents unique diagnostic and therapeutic challenges.

Observation:

• A 49-year-old woman presented with a 30-year history of inguinal masses, with recent significant enlargement of the left-sided mass.
• Surgical resection revealed a dysgerminoma in the left mass and cryptorchidism in the right.

Findings:

• Immunohistochemical analysis showed positive expression of placental alkaline phosphatase (PLAP) and octamer-binding transcription factor 3/4 (OCT4) in the dysgerminoma.
• Karyotype analysis confirmed a 46, XY karyotype, supporting the diagnosis of true hermaphroditism with dysgerminoma.

Implications:

• PLAP and OCT4 expression may serve as diagnostic markers for dysgerminoma in true hermaphroditism.
• Combined surgical, chemoradiotherapeutic, and hormone replacement strategies can improve prognosis and maintain female characteristics in these patients.