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

We report a rare case involving a 22-year-old phenotypically female patient who presented to our care with primary amenorrhea and spontaneous breast development. Hormonal analysis indicated hypergonadotropic hypogonadism, and imaging revealed a hypoplastic uterus and calcified ovaries. Karyotyping was 46, XY and the presence of the SRY gene was confirmed. The patient underwent laparoscopic bilateral salpingo-oophorectomy due to the high risk of malignancy development. Histopathological analysis revealed bilateral Sertoli cell tumors and a sex cord tumor with annular tubules in the right gonad. Next generation sequencing genetic testing identified a 1.24 Mb deletion on chromosome 9p24.3, which included the DMRT1, DMRT2, and DMRT3 genes, as well as a partial deletion of KANK1. Hormonal replacement therapy was not initiated due to the potential risk of tumor recurrence, and follow-up imaging was scheduled every 6 months for the first 2 years and then annually. No recurrence was observed at 24 months.