Achieving diagnostic certainty in resource-limited settings.
[congenital adrenal hyperplasia]
Disorders of sex development are complex disorders with atypical chromosomal, gonadal or anatomical sex. Decision making in relation to sex assignment has been perceived as extremely disturbing and difficult for families and healthcare professionals. This is mainly due to a general paucity of information about the condition, lack of advanced diagnostic settings, and an exaggerated feeling of stigma and shame associated with genital abnormalities. Lack of accurate healthcare information and reporting results in poor knowledge about the exact incidence and impact of these disorders in resource-poor countries. Lack of neonatal screening facilities for congenital adrenal hyperplasia often results in delayed diagnosis of these disorders and perhaps a higher number of deaths, especially in male children who lack ambiguity of genitalia. Technically more sophisticated investigations are often not available or affordable, posing further difficulties in establishing a diagnosis. Limited resources also include the lack of availability of adequately trained personal. Thus, the establishment of the recommended and necessary multidisciplinary team is often hard to accomplish in these countries. This seriously compromises the ability to manage these children properly. Finally, countries in places like Southeast and Far East Asia and sub-Saharan Africa are often accompanied with their unique cultural and social issues, filled with myths and misconceptions, which worsens the already complex situation. Thus, a huge limitation exists in dealing with these children with disorders that are complex to diagnose and manage, even in countries with advanced and well-equipped medical facilities.
