Searchable abstracts of presentations at key conferences in endocrinology

ea0063oc10.1 | Adrenal 2 | ECE2019

Steroid metabolomics: a rapid computational approach for accurate differentiation of inborn disorders of steroidogenesis

Baranowski Elizabeth S , Ghosh Sreejita , Shackleton Cedric HL , Taylor Angela E , Hughes Beverly A , Gilligan Lorna C , Utari Agustini , Faradz Sultana MH , van Herwaarden Antonius E , Claahsen-van der Grinten Hedi L , Biehl Michael , Guran Tulay , Bunte Kerstin , Tino Peter , Arlt Wiebke

Background: Measurement of steroid metabolite excretion in urine by gas chromatography-mass spectrometry (GC-MS) provides a comprehensive profile of an individual’s adrenal and gonadal steroid production. It has long been acknowledged as a useful tool for diagnosis of inborn disorders of steroidogenesis leading to congenital adrenal hyperplasia and disorders of sex development. Ratios of steroid metabolites can be employed as surrogates for enzymatic activities of distinc...