Initial presentations and associated clinical findings in patients with classical congenital adrenal hyperplasia

The objective of this study was to investigate the initial presenting features of children with classical congenital adrenal hyperplasia (CAH).

This is a descriptive retrospective study over a period of 5 years. Data analysis was performed using Statistical Package for Social Science.

Ambiguous genitalia (AG) was the commonest initial presentation marking 50.7% of the patients. On the other hand, 33.3% presented with a salt-losing crisis, 4.1% of whom presented with shock, while 14.5% had a combined presentation of both AG and a salt-losing crisis.

CAH should be highly suspected in all females born with AG. Contrarily, affected male newborns more frequently present with a salt-losing crisis, and considering the recent institution of newborn screening in Saudi Arabia, earlier detection in these children is anticipated.