Christian Battipaglia

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

Abstract 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.