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...
S. Moradifard, Thanh Nha Uyen Le, Ha Thu Nguyen et al.· Journal of Clinical Endocrin...· 0 citations
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