Genital Ambiguity and Challenges in Gender Assignment

Abstract

This is a case presentation involving two siblings of four and six years of age with female gender identity from a neighboring country with 46,XY DSD and a 20 years old youngster from Northwest Ethiopia with an alleged male sex but with a 46,XX DSD; but definitely all the three with obvious ambiguous external genitalia. The 46XX, DSD with Congenital Adrenal Hyperplasia (CAH) generated more challenges as opposed to the siblings who were diagnosed to have Complete Androgen Insensitivity Syndrome (CAIS). The case presentations are unique as they were referred for sex identification by physicians unlike the usual late complaints of patients with primary amenorrhea or absence of menarche, failure to attain penetrative vaginal sexual intercourse or primary infertility. It was evident that the role of the parents, grandparents, relatives and the healthcare professionals is very much impacting in the sex assignment of the clients, although the final preferential gender choice is made by the individual himself. The atypical external genitalia, contrary to the sex of rearing so far, are the hallmark of the abnormality and source of confusion of the clients under investigations. An early and thorough neonatal physical examination and random checkups of pediatric age groups underscores the complex issues of the subsequent multidisciplinary approach towards the sex assignment. The situations glare the psychosexual and physical development of those involved and the undesirable consequences in their respective families, relatives and their respective societies where beliefs, religion and culture play significant role in the social upbringing of the individual. The main objective of the presentation is to increase the degree of awareness among healthcare professionals of the existence of such congenital anomalies in the communities and is also intended to contribute to the national and world literature.