hrp0082p2-d1-264 | Adrenals & HP Axis | ESPE2014

LC–MSMS Profiling of Plasma Steroids in Different Types of Congenital Adrenal Hyperplasia

Kulle Alexandra E. , Reinehr Thomas , Akkurt Halit Ilker , Commentz Christian , Heger Sabine , Simic-Schleicher Gunter , Welzel Maik , Hornig Nadine C. , Holterhus Paul-Martin

Background: Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders which lead to impairment of steroid biosynthesis in the adrenals and gonads. 21-hydroxylase deficiency (21OHD) is the most common form of CAH (95%), followed by 11β-hydroxylase deficiency (11OHD) and 3β-dehydrogenase steroid dehydrogenase type 2 deficiency (3bHSD2). LC–MSMS based steroid analysis has become an increasingly important method for steroid analyses i...