ESPE Abstracts

Background: P450 oxidoreductase (POR) is a co-factor critical for the function of type 2 microsomal cytochrome P450 enzymes. POR deficiency (PORD) results in a rare form of congenital adrenal hyperplasia, with combined attenuation of CYP21A2 and CYP17A1 steroidogenic enzymes. It is characterised by combined deficiencies of glucocorticoids and androgens postnatally. Differences in sex development can arise in both sexes due to antenatal activation of the altern...

Background: Biochemical ratios of precursor-to-product urinary steroid metabolites have been proposed as surrogate markers of steroidogenic enzyme activity to aid the differential diagnosis of inborn disorders of steroidogenesis. Using ratios rather than total amounts facilitates analysis of single spot urine samples, more convenient than 24-h urine collections for young children. Previous studies examining the utility of these biochemical ratios have been lim...