Ovotesticular Cords and Ovotesticular Follicles:A New Histologic Marker of Ovotesticular Syndrome
Laurence Baskin, MD1, Mei Cao, MD1, Linda Baker, MD2, Chris Cooper, MD3, Sena Aksel, MD1, Yi LI, MD1, Gerald Cunha, PhD1.
1UCSF, San Francisco, CA, USA, 2Nationwide, Columbus, OH, USA, 3Iowa, Iowa City, IA, USA.
BACKGROUND: Ovotesticular syndrome is a rare disorder of sex development. The diagnosis can be difficult with the gold standard being the presence of both testicular cords and ovarian follicles within the same gonad. Herein we describe two new markers of ovotesticular syndrome: ovotesticular cords and ovotesticular follicles.
Methods: Fifteen human gonads with a previous diagnosis of ovotesticular syndrome were re-stained with markers for testicular cords (SOX9, cP450, AR, α-actin, SALL4) and ovarian development (FOXL2, SALL4) Sixty-eight ovotesticular xenografts and their controls were also analyzed by histology, immunohistochemistry, and fluorescent in situ hybridization to determine the protein expression and karyotype of the cells within the grafts.
Results: Two new structures were identified in both the experimental xenografts(Figure 1&2) and human specimen (Figure 3&4) ovotesticular gonads: 1) Ovotesticular cords which were defined as hybrid testicular cords containing an outer compact basal cell layer of small cells surrounding large germ cells with copious cytoplasm. Ovotesticular cords contained cells expressing both testicular marker (SOX9) and an ovarian marker (FOXL2), and 2) Ovotesticular follicles which were defined as a hybrid ovarian follicle containing predominantly FOXL2-positive granulosa cells and a central oocyte, but also containing putative testicular SOX9 intermingled within the granulosa cells of the follicles. In both ovotesticular cords and follicles, the testicular and ovarian cell types appeared normal. These new structures were identified in ~60 of the human gonads and ~ 80 % of the experimental xenografts analyzed.
Conclusion: We have identified two new structures which have not been previously reported, ovotesticular cords and ovotesticular follicles, which appear to be reliable markers for the diagnosis of ovotesticular gonads.
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