ESPE Yearbook of Paediatric Endocrinology

J Pediatr Urol. 2025 Apr 17:S1477-5131(25)00181-0. doi: 10.1016/j.jpurol.2025.04.009

Brief summary: This clinical study investigated whether it is surgically feasible to separate the testicular and ovarian components within an ovotestis. Ovotestes, found in individuals with ovotesticular DSD, contain both seminiferous tubules and ovarian follicles and exist in mixed or bipolar configurations. The authors examined 20 human gonadal specimens originally diagnosed as ovotestes. Upon re-sectioning and retesting with markers for testicular tissue (SOX9, TSPY, etc.) and ovarian tissue (FOXL2, DDX4), six specimens did not have ovarian presence. Of the remaining 14 specimens from 13 patients, 7 provided full gonadal cross-sections suitable for analysis of potential separation planes. Histology revealed a complex intermingling of testicular and ovarian structures, with follicles often encircling seminiferous cords and mixed tissue layers in between, indicating no clear boundary for surgical dissection.

In partial biopsy specimens, a similar absence of a distinct separation plane was found. The ovarian and testicular tissues were intimately interwoven, preventing “‘clean’ surgical excision” of either component without removing adjacent tissue of the other type. Based on this anatomical analysis, the authors concluded that it is not feasible to surgically isolate testicular or ovarian tissue from human ovotestes without leaving behind tissue discordant with the patient’s gender identity.

Limitations of the study include the limited sample size, which may not cover the full range of anatomical variation, especially in the rarer bipolar ovotestes, leaving open the possibility that some rare anatomical configurations may allow for separation. Secondly, the study is based solely on retrospective histological evaluation rather than clinical surgical outcomes. While informative, histology alone cannot confirm whether alternative approaches (e.g., dissection guided by intraoperative imaging or microsurgical techniques) might allow cleaner separation with acceptable functional outcomes. Lastly, the investigation did not assess actual surgical or reproductive consequences of preserving mixed gonadal tissue. As a result, the impacts on hormonal function, fertility, risk of gonadectomy, patient gender identity satisfaction, or tumorigenic potential of residual tissue remain unanswered. Multidisciplinary studies combining histology with in vivo imaging, intraoperative assessment, and long-term follow-up are needed to fully evaluate the potential, and risks, of conservative approaches in managing ovotestis.