Shahid Aziz, Salman Ali, Shamama Hasan, Shahida Badsha.
Mode of presentation and short term response to treatment in cases of Congenital Adrenal Hyperplasia (CAH) detected over a period of one year at Military Hospital Rawalpindi.
Pak Armed Forces Med J May ;56(2):125-8.

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition which not infrequently presents with life threatening emergencies. Awareness of physicians regarding these presentations is a prerequisite for a prompt diagnosis and life saving treatment. In view of the prevalence of the condition as reported from tertiary care centres within the country and other parts of the globe, we carried out a study in the department of pediatric medicine at the Military Hospital Rawalpindi to determine the modes of presentation of congenital adrenal hyperplasia (CAH) and to observe the short term response to treatment. Material and Methods: The study extended over a period of one year from Aug 2003 to July 2004. All children presenting with vomiting, dehydration, shock, failure to thrive and ambiguous genitalia were examined and investigated thoroughly. The mainstay of the diagnosis was a raised level of serum 170HP in a child with suggestive clinical features. Results: A total of 30 children were fournd to have CAH during the study period. The major clinical features a presentation were vomiting 8(26.7%), ambiguous genitalia 7(23.3%), vomiting and ambiguous genitalia 10(33.3%), shock 4(13.3%) and failure to thrive 1(3.3%). All the patients were followed up after initiation of treatment and response was observed. Conclusion: The study highlights the importance of common clinical symptoms life vomiting being the presenting features of CAH and the effectiveness of replacement therapy in ameliorating life threatening emergencies due to this condition.

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