A clinical account of Pakistani children suffering from congenital adrenal hyperplasia Authors Sumreena Mansoor Department of Biochemistry, Shifa College of Medicine, Islamabad, Pakistan Maria Hasan Baloch Department of Biochemistry, Shifa College of Medicine, Islamabad, Pakistan Zarmast Khan Department of Pediatrics, Shifa College of Medicine, Islamabad, Pakistan Almas Ashraf Department of Biochemistry, Shifa College of Medicine, Islamabad, Pakistan DOI: https://doi.org/10.47391/JPMA.5234 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. Downloads Full Text Article Published 2023-02-15 How to Cite Sumreena Mansoor, Baloch, M. H., Zarmast Khan, & Almas Ashraf. (2023). A clinical account of Pakistani children suffering from congenital adrenal hyperplasia. Journal of the Pakistan Medical Association, 73(2), 366–369. https://doi.org/10.47391/JPMA.5234 More Citation Formats ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver Download Citation Endnote/Zotero/Mendeley (RIS) BibTeX Issue Vol. 73 No. 2 (2023): February Section ORIGINAL ARTICLE