A Rare Cause of Female Virilization: A Case Report.
Rodrigo Realista, Beatriz Neves, Julia Pereira, Ana Rita Pinto
Abstract
Open AccessSertoli-Leydig cell tumors (SLCTs) are uncommon ovarian sex cord stromal neoplasms that typically affect young women and may cause a rise in androgen production. We report a case of a 21-year-old woman who sought medical care because of a two-year amenorrhea, progressive virilization, and a large abdominopelvic mass. Imaging revealed a solid multiloculated adnexal lesion measuring 200 x 80 x 150 mm, associated with a marked hyperandrogenism (total testosterone 584 ng/dL). She underwent surgery for a left adnexectomy, in which no extraovarian involvement was noticed. Histopathology disclosed a moderately differentiated SLCT with mixed Sertoli and Leydig elements, high mitotic activity, and positivity for WT1, CAM5.2, inhibin A, vimentin, and calretinin. Peritoneal cytology was negative, which classified the disease stage as IA. Tumor sequencing identified two somatic DICER1 variants, although not present in peripheral blood, thus excluding a DICER1 syndrome. The patient recovered uneventfully, and at six months after surgery, androgen levels and clinical virilization signs had resolved. Given their usual early presentation, SLCTs are primarily managed surgically with conservative unilateral resection. Prognosis correlates with differentiation and stage. Periodically, clinical and biochemical surveillance is advised, and molecular testing can guide genetic counseling and further management.