DISORDERS OF SEXUAL DEVELOPMENT

A CRYPTIC COMBO OF CARE

Abstract

Objectives: 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. Study Design: A descriptive, prospective case series. Setting:
Department of Pediatric Surgery, Military Hospital, Rawalpindi, Pakistan. Period: October 2010
to June 2014. Methods: All patients with atypical genitalia, who underwent any kind of genital
reconstruction surgery were included in the study. Results: 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. Conclusions: 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.