Ovotesticular Disorder of Sex Development: A Single-Center Experience

Ovotestis in Adolescence: 2 Case Reports

“…1, 6–9 Clinical features often depend on the underlying karyotype. The most common karyotype in otDSD is 46,XX, 1, 2, 4, 5 as in our first patient. However, findings of 46,XX/47,XXY (mosaic KS) in the setting of otDSD are much more rare.…”

“…1 These patients generally present at birth with ambiguous genitalia. 1–4 Karyotypes vary including 46,XX, 46,XY, and several mosaic and aneuploidic forms. 1, 2, 5 Here we report on two phenotypic males who presented late during adolescence and were found to have otDSD.…”

Clinical, Cytogenetic, and Histopathologic Profile of a Case Of 46,XY Gonadal Dysgenesis

“…The highest risk is in cases of intraabdominal testicular tissue and the lowest in inguinal tissues (4). In both an Indian study of 7 patients with OT-DSD by Khadilkar et al (8) and a Japanese study of 8 patients by Matsui et al (12), none of the patients developed germ cell tumors over long-term follow-up. Consistent with these studies, neither the biopsy of the single seminiferous tubule of the left gonad nor the histopathology of the right gonad revealed any evidence of malignancy or carcinoma in our patient.…”

“…Most patients with OT-DSD have ambiguous genitalia and are often diagnosed within the first few months or years of life (1,8). In addition to ambiguous genitalia, patients may present with inguinal hernias, gynecomastia during adolescence, or lower abdominal mass in adulthood.…”

“…In addition to ambiguous genitalia, patients may present with inguinal hernias, gynecomastia during adolescence, or lower abdominal mass in adulthood. Some having a uterus and functional ovarian tissue may even present with cyclical hematuria (8). In OT-DSD, the degree of virilization of the external genitalia depends on the capacity of the testicular tissue to secrete testosterone.…”