Disorders of sex development in a developing country: perspectives and outcome of surgical management of 39 cases

Improvements in diagnostic testing and genital repair have significantly advanced the management of disorders of sex development (DSD). Challenges however, still exist in the management of DSD. This study evaluated the types, challenges of surgical management, and outcome of DSD in south-east Nigeria. Retrospective analysis of 39 children with DSD managed from January 2005 to December 2013 at the University of Nigeria Teaching Hospital, Enugu, Nigeria. Types of DSD were: 46, XX DSD in 17 (43.6 %) cases; 46, XY DSD 16 (41 %); Ovotesticular DSD 5 (12.8 %); and one (2.6 %) 46, XY Ovotesticular DSD. Median age at definitive gender assignment was 3 years (range 2 months-14 years). Gender assignment was female for 20 (51.3 %; all 46, XX DSD, one each of 46, XY DSD, Ovotesticular DSD and 46, XY Ovotesticular DSD), and male for 19 (48.7 %; 15 of 46, XY DSD, 4 of Ovotesticular DSD). Eight cases reared as male before presentation required gender reassignment after evaluation and counselling. Genital repair was undertaken at mean age of 4.1 years (range 6 months-14 years). After average follow-up of 22.5 months (range 1 month-7 years), a total of eleven (28.2 %) developed procedure-related complications. Challenges were delayed diagnosis, inadequate diagnostic facilities, and need for gender reassignment. There is a wide spectrum of DSD in our setting. Time to diagnosis, evaluation, and outcome may be improved by public enlightenment initiative, focused education of healthcare personnel and provision of relevant diagnostic facilities through enhanced funding and collaboration.