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

Abstract

Introduction

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).

Patients and methods

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.

Results

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 %).

Conclusion

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.

Type of study

Retrospective case series.

Level of evidence

IV.