Sertoli cell tumor associated with ovarian sex cord tumor with annular tubules in a patient with 46 XY disorder of sex development and 9p24.3 deletion, case report

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Discussion

Case report highlights a rare 46 XY disorder of sex development, revealing both Sertoli cell and sex cord tumors.

Histopathological analysis confirmed the presence of bilateral sertoli cell tumors and a sex cord tumor.
Genetic testing identified a significant 1.24 Mb deletion on chromosome 9p24.3 related to tumor development.
The patient underwent a laparoscopic bilateral salpingo-oophorectomy due to a high risk of malignancy.
Follow-up imaging at 24 months found no recurrence, indicating careful monitoring is essential.

Petrillo et al. (2025) studied this question.

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