URINARY STEROID PROFILE OF A NEWBORN SUFFERING FROM PSEUDOHYPOALDOSTERONISM

A case is described of a newborn, admitted to hospital because of seve re salt loss at the age of 1 month. Subsequent analysis of urinary ste roid excretion, by gas chromatography and gas chromatography-mass spec trometry, revealed that the patient suffered from pseudohypoaldosteron ism, However, it was difficult to interpret the results unambiguously, since the first urinary analysis appeared to suggest 21-hydroxylase- or 18-hydroxylase deficiency, The final diagnosis was possible only af ter detecting high urinary levels of aldosterone and tetrahydroaldoste rone. It is concluded that neonatal urinary steroid profiles should be interpreted cautiously in order to arrive at the correct diagnosis.