hrp0084p2-324 | DSD | ESPE2015

DSD 46,XY and Serum Steroid Profile Ambiguity due to Combined 17-Beta Hydroxysteroid Dehydrogenase/21-Hydroxylase Deficiencies

Kuznetsova Elena , Ioutsi Vitaliy , Kolodkina Anna , Kalinchenko Natalia , Tiulpakov Anatoly

Background: An accurate and comprehensive assessment of steroid hormones is pivotal for differential diagnosis of disorders of sex development (DSD) 46,XY, a part of which may be due to defects of testosterone biosynthesis.Objective and hypotheses: To describe and characterise a case of DSD 46,XY presented with unusual serum steroid profile.Method: Serum steroid hormones were analysed by liquid chromatography-tandem mass spectromet...