Gonadal Genetics and Germ Cell Tumor Risk in SRY-Negative 46,XX Testicular/Ovotesticular Disorders of Sex Development
Authors' conclusion
The risk of GCTs in individuals with SRY-negative 46,XX testicular and ovotesticular DSD remains contentious. This study underscores the importance of comprehensive genetic and histological evaluations of gonadal tissues. Immunohistochemical findings suggest a relatively low GCT risk; however, long-term follow-up is essential for effective patient monitoring.
Study context
- Population
- Patients with SRY-negative 46,XX testicular or ovotesticular disorders of sex development (DSD) who underwent gonadal biopsy or gonadectomy
- Participants
- 35 patients
- Exposure
- Ovotesticular vs Testicular
- Ovotesticularn = 26
- Testicularn = 9
- Outcome
- Gonadal genetics and GCT risk
Main finding
As reported in the abstract
Pathogenic NR5A1 variants (2) and SOX3 duplication (1) in peripheral blood
3 out of 34 patients
8.82%
XX/XY chimerism in gonadal tissue
1 out of 32 patients
3.13%
OCT 3/4 positivity in testicular parenchyma; positive germ cells mainly at center of seminiferous cords, SCF-negative
7 of 35
Observational data: associations, not effects.
Original publication
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