'Don't leap to a conclusion of sepsis!' Congenital adrenal hyperplasia in male neonates: case series and literature review.

Abstract

Hyponatremia, hypoglycaemia and hyperkalaemia occurring in the first few weeks of life in the first instance indicate adreno-cortical insufficiency due to congenital adrenal hyperplasia (salt-losing type). Girls have ambiguous genitalia, while boys may or may not have a large penis at birth. Both boys and girls are asymptomatic for the first few days, after which clinical features develop which include poor feeding, lethargy, vomiting, hypotension and dehydration. The development of severe hyponatremia accompanied by hyperkalaemia and dehydration becomes a life-threatening medical emergency. Consequently, the diagnosis of congenital adrenal hyperplasia (CAH) may not be suggested in male neonates until evident signs of adrenal insufficiency develop. Certain clinical features may, confusingly, commonly suggest neonatal sepsis. We report two cases to emphasize the importance of establishing a prompt diagnosis of CAH in male neonates, presenting with a clinical picture initially suggestive of neonatal sepsis. Inadequate response owing to delayed diagnosis in these cases may result in rapid deterioration and increased morbidity and mortality.