Challenges and Outcomes of 46,XY Disorders of Sex Development: An Analysis of 30 Cases from Senegal

Introduction: Optimal management of 46,XY disorders of sex development (DSD) has numerous challenges. The aim of this study was to evaluate the epidemiological, diagnostic, therapeutic and prognostic aspects of 46,XY DSD in Senegal. Methods: A retrospective, descriptive study of patients with 46,XY DSD was done between May 2017 and April 2022. Study parameters included incidence, age at diagnosis, phenotype, etiologies, assigned sex, treatment outcome and morbidity. Results: There were 30 new patients of 46,XY DSD. It represented 28% of all DSD cases, with a hospital frequency of 6 new cases per year. The mean age at diagnosis was 46 months. Female or ambiguous phenotypes were found in 3 cases each. The etiologies were androgen insensitivity (n=5), persistent Mullerian duct syndrome (n=4), gonadal dysgenesis (n=3), male adrenal hyperplasia (n=2), testosterone deficiency (n=2), ovotestis (n=2) and uncertain (n=3). The initially assigned sex was retained in 29 cases (97%). One patient required reassignment to male sex. Psychological support (n=3) and medical treatment (n=4) were needed in a few cases. Gonadal surgery and masculinizing genitoplasty were done in 13 (43%) patients. Post-genitoplasty morbidity was observed in 6 cases (46%). Conclusion: 46,XY DSD are rare disorders of diverse etiologies. Proper management with a multidisciplinary team can improve treatment outcomes.