Evaluation and Treatment Outcomes of Disorders of Sex Development (DSD) in Pediatric Patients: A Retrospective Analysis Spanning a Decade

Background: Disorders of Sex Development (DSD) encompass a wide range of congenital conditions in which there is a discrepancy between chromosomal, gonadal, and anatomical sex. These conditions require complex and multidisciplinary management strategies, making the evaluation of treatment outcomes crucial for the advancement of medical care in this field. This study presents a thorough review of the evaluation, treatment, and follow-up of DSD patients treated at our department over the last decade. Methods: A comprehensive retrospective analysis was conducted on the medical records of pediatric patients diagnosed with DSD from 2012 to 2022. Data were meticulously collected on demographics, clinical presentations, diagnostic methodologies, therapeutic interventions, and long-term outcomes. Statistical analyses were performed to elucidate trends, correlations, and potential areas for improvement in clinical practice. Results: A total of 15 patients were treated for DSD over the study period, with Congenital Adrenal Hyperplasia (CAH) identified as the most frequent condition, representing 60% of the cases. Other significant conditions included Complete Androgen Insensitivity Syndrome (CAIS) and Mixed Gonadal Dysgenesis (MGD). Patients presented with a variety of symptoms ranging from ambiguous genitalia in neonates to inguinal hernias in older children. A combination of hormonal therapies and surgical interventions, such as clitoral reduction with feminizing genitoplasty and laparoscopic gonadectomy, were utilized. The majority of patients experienced positive outcomes in terms of both cosmetic and functional aspects, though the importance of continuous follow-up cannot be overstated. Conclusion: The findings of this study highlight the complexities involved in the management of DSD and reinforce the importance of individualized treatment plans. The study also underscores the critical role of early diagnosis, multidisciplinary management, and ongoing follow-up in optimizing patient outcomes. Future research should focus on the long-term psychosocial impacts and quality of life in DSD patients.