Case Report: A Rare Form of Congenital Adrenal Hyperplasia (CAH)

We present two cases of CAH who presented within the same time to our neonatal unit. Both cases had antenatal diagnosis of intrauterine growth restriction (IUGR) and were both born prematurely with very low birth weights. Both cases presented before the age of two months. The first case was diagnosed after developing hyponatremia and hyperkalaemia. However; both cases shared a remarkable increase in skin hyperpigmentation which was obvious to both of their mothers who had fair skin colour. These cases turned to be cases of lipoid CAH. We present these cases to highlight the importance of the antenatal diagnosis of IUGR in metabolic diseases. The presence of dark colour of the skin in fair coloured families should alert the physician to seek the diagnosis of CAH early. We think that clinicians should be aware of the presence of such diagnostic clues to establish an early diagnosis in order to avoid further morbidities and mortalities.