DISORDERS OF SEXUAL DEVELOPMENT

Abstract

Objectives: To evaluate the etiology, clinical presentations, investigationsand surgical management of patients presenting with atypical genitalia in Pediatric surgerydepartment. Disorders of Sexual development are one of the most complex congenitaldisorders encountered by the treating physicians. In recent years, the diagnostic ability andsurgical techniques of gender reconstructions have improved remarkably. The spectrumincludes chromosomal, genotype and phenotype abnormalities. The birth of a baby withatypical genitalia poses diagnostic and treatment challenges. This article focuses on etiology,clinical presentations, investigations and surgical management of patients presentingwith ambiguous genitalia. Study Design: A descriptive, prospective case series. Setting:Department of Pediatric Surgery, Military Hospital, Rawalpindi, Pakistan. Period: October 2010to June 2014. Methods: All patients with atypical genitalia, who underwent any kind of genitalreconstruction surgery were included in the study. Results: A total of 28 patients were operatedupon during the study period. Age ranged from 11months to 12 years. Patients were dividedinto two groups on the basis of their karyotyping. Seventeen patients had 46 XY and 11 had 46XX. No mosaic pattern was seen. Male genital reconstructive surgery was done in 16 patientswhile 12 underwent female genital reconstructive surgery. Conclusions: Disorders of sexualdevelopment present as a complex spectrum of psychosocial, sexual, endocrine and surgicalimplications, thus management demands a multidisciplinary team approach. Appropriatelytimed surgical intervention after thorough work up and detailed counseling, produce excellentcosmetic and functional results.