Ha Thu Nguyen

Biallelic CYB5A disruptions in 46, XY DSD: Novel missense and deep intronic variants.

BACKGROUND Cytochrome b5, encoded by CYB5A, is an essential co-factor for CYP17A1-mediated 17,20-lyase activity. CYB5A deficiency is a rare cause of 46,XY DSD. We report two siblings with 46,XY DSD from a Vietnamese family, presenting with phenotypic female. METHODS Clinical evaluation and hormone profiling were cond...