hrp0086p1-p349 | Gonads & DSD P1 | ESPE2016
Auerbach Adi
, Weinberg Shokrun Ariella
, Abdelhak Najwa
, Lavi Eran
, Hidas Guy
, Landau Yehezkel
, Levy-Lahad Ephrat
, Zangen David
Background: 5-alpha-reductase-2 (5α-RD2) deficiency is an autosomal recessive 46,XY disorder of sexual development, characterized by undervirilized prepubertal males with ambiguous genitalia. The pubertal rise in testosterone and 5α-RD1 isoenzyme activity causes virilization, often resulting in gender assignment change. Early precise diagnosis which anticipate adult function is critical for treatment and gender assignment.Objective and hypothes...