hrp0098p1-214 | Adrenals and HPA Axis 3 | ESPE2024

The unique urinary steroid metabolome in infants with P450 oxidoreductase deficiency in the first week of life

S. Baranowski Elizabeth , Idkowiak Jan , Waterson John , D’Harlingue Arthur , H. Olney Ann , E. Ivison Hannah , A. Hughes Beverley , W. Mueller Jonathan , Arlt Wiebke , H.L. Shackleton Cedric

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...