Disorders of sexual development; a cryptic combo of care

ABSTRACT

To evaluate the etiology, clinical presentations, investigations and surgical management of patients presenting with atypical genitalia in Pediatric surgery department. Disorders of Sexual development are one of the most complex congenital disorders encountered by the treating physicians. In recent years, the diagnostic ability and surgical techniques of gender reconstructions have improved remarkably. The spectrum includes chromosomal, genotype and phenotype abnormalities. The birth of a baby with atypical genitalia poses diagnostic and treatment challenges. This article focuses on etiology, clinical presentations, investigations and surgical management of patients presenting with ambiguous genitalia. A descriptive, prospective case series. Department of Pediatric Surgery, Military Hospital, Rawalpindi, Pakistan. October 2010 to June 2014. All patients with atypical genitalia, who underwent any kind of genital reconstruction surgery were included in the study. A total of 28 patients were operated upon during the study period. Age ranged from 11months to 12 years. Patients were divided into two groups on the basis of their karyotyping. Seventeen patients had 46 XY and 11 had 46 XX. No mosaic pattern was seen. Male genital reconstructive surgery was done in 16 patients while 12 underwent female genital reconstructive surgery. Disorders of sexual development present as a complex spectrum of psychosocial, sexual, endocrine and surgical implications, thus management demands a multidisciplinary team approach. Appropriately timed surgical intervention after thorough work up and detailed counseling, produce excellent cosmetic and functional results: