Ambiguous genitalia, two decades of experience: clinical management and sex assignment

ABSTRACT

Ambiguous genitalia constitute a major social and medical emergency. This study was conducted to assess the relevant clinical significance of this important clinical entity. During the period 1989-2008, eighty-one patients with ambiguous genitalia were evaluated in a Pediatric Endocrine Clinic at King Khalid University Hospital [KKUH], Riyadh, Saudi Arabia. Of these 53 [65.4%] were genetically females [46XX], and 28 [34.6%] were having a male genetic sex [46XY]. The majority of them were proven to have congenital adrenal hyperplasia. Twenty-five [47.2%] of the genetic females were wrongly assigned a male sex due to severe virilization while only two [7.1%] of the genetic males were wrongly assigned as females. Although early neonatal diagnosis facilitates appropriate management, socio- cultural factors such as a bias concerning the male gender in the community and strong influence of the grandparents constitute major management obstacle. All genetic males who were wrongly assigned as females accepted re-assignment, and four [16%] of the 25 genetic females who were wrongly assigned as males refused re-assignment. A team approach is mandatory for successful management. Guidelines for approaching the problems are also highlighted