A clinical account of Pakistani children suffering from congenital adrenal hyperplasia

Abstract

The objective of the endeavour was to study the clinical presentation, diagnosis, and management of paediatric patients suffering from congenital adrenal hyperplasia and understand the issue in the light of available published data on the disease in Pakistan through a systematic analysis of researches.

From an analysis of five-year retrospective data on congenital adrenal hyperplasia in patients of paediatric age group from a tertiary care centre in the capital of Pakistan and the available published Pakistani literature on CAH, it was concluded that the resultant deficiency of cortisol, aldosterone, and a rise in adrenal androgens is responsible for the symptomatology observed in the disease. Particularly, the presence of ambiguous genitalia makes the disease a difficult problem to tackle, especially in complex social conditions such as in Pakistan. The country not only lacks statistical data on the disease but also the diagnostic machinery making the problem two fold. It is only through maintaining an efficient disease registry and the introduction of neonatal screening programme that we might start grappling the crux of the issue.

Keywords: Congenital adrenal hyperplasia, Presentation, Challenges, Pakistan.