Clinical profile of congenital adrenal hyperplasia and short-term response to treatment

Objective: To determine the clinical presentation of congenital adrenal hyperplasia (CAH)and short-term response to treatment. Methodology: This study was conducted over a period of one year from July 2012 to June 2013 at Shaheed Mohtarama Benazir Bhutto Medical University (SMBBMU), at Chandka Medical College Hospital, Larkana, Pakistan. All infants presenting with vomiting, dehydration, shock, failure to thrive and ambiguous genitalia were examined and investigated. The diagnosis was based upon a raised level of serum 17 OHP in a child with suggestive clinical features. Results: A total of 40 children were diagnosed to have CAH during the study period. The major presenting features were vomiting in 13 (32.5%), ambiguous genitalia 17 (42.5%), vomiting and ambiguous genitalia 10 (25%), shock 5(12.5%) and failure to thrive in 13 (32.5%) of cases. All were followed up after initiation of treatment and good response was observed to short-term treatment. Conclusion: This study highlights the importance of common clinical features like vomiting, unreasonable dehydration, shock and ambiguous genitalia being the presenting features of CAH and the effectiveness of replacement therapy in amending life threatening emergencies due to this condition. (Rawal Med J 201; 40: 44-47).