DEFINITIVE DIAGNOSIS OF ENZYMATIC DEFICIENCIES OF STEROIDOGENESIS IN AT-RISK NEWBORNS AND INFANTS BY URINARY MARKER ANALYSIS USING GC/MS-SIM

A simplified urinary marker analysis for diagnosis of congenital adrenal hyperplasia (CAH) and 5α-reductase deficiency in infancy by GC/MS-SIM is introduced. The analysis was performed in 161 patients