Ovotesticular Disorders of Sexual Development: Diagnostic, Therapeutic, and Evolutionary Aspects

Disorders of sexual development (DSDs) have various etiologies. Our study aims to describe the diagnostic, therapeutic, and evolutionary aspects of ovotesticular disorders of sexual development (OT-DSDs).

We conducted a retrospective, descriptive study in the pediatric surgery department of the Albert Royer National Children's Hospital Center in Dakar. From January 2019 to December 2023, sixteen children diagnosed and followed for OT-DSD were included in the study. The patient's ages ranged from 3 days to 14 years, with a mean age of three years. We studied the assigned gender, genetic sex, clinical presentation, imaging findings, treatment, and morbidity.

The assigned gender was female in ten patients (62 %), male in five (32 %) and undetermined for one patient. Among those raised as male, two showed signs of female puberty. Nine patients (56 %) presented with an ambiguous phenotype. All of our patients had a 46, XX karyotype. The diagnosis included unilateral ovotesticular DSD in ten cases (63 %), lateral in five cases (31 %), and bilateral in one case (6 %). Three patients were reassigned to the female gender, and two maintained their male assigned gender. Partial gonadectomy was performed in 56 % of the cases. Genitoplasty was performed in nine patients, seven of whom underwent feminizing procedures (78 %). Postoperative morbidity included one case of vaginal stenosis (11 %).

Disorders of sex development can be diagnosed late, with patients typically having a 46, XX karyotype. The most common form is unilateral, involving an ovotestis and an ovary. Partial gonadectomy is possible even without intraoperative histological examination.

Retrospective case series.

IV.