Skip to main content
. 2016 Feb 5;11(2):e0148548. doi: 10.1371/journal.pone.0148548

Table 2. Most frequent CYP21A2 genotypes, CAG allelic distribution and period of onset of hyperandrogenic manifestations.

CYP21A2 genotype Patients n (%) Mean nCAG Shorter Alleles n (%) Period of manifestations
childhood (n) adult (n)
V281L/V281L 42 (36.8) 21.3 ± 2.8 9 (10.7) 16 26
I2Sp/V281L 15 (13.2) 21.3 ± 3.2 4 (13.3) 8 7
LR/V281L 12 (10.5) 22.6 ± 1.2 0 4 8
P453S/V281L 7 (6.1) 21 ± 3.6 3 (21.4) 4 3
R356W/V281L 4 (3.5) 22.7 ± 1.3 0 3 1
Del 8nt/V281L 3 (2.6) 19.6 ± 2.1 2 (33.3) 2 1

LR: large gene rearrangements, included large gene conversions and the CYP21A2 deletions; Del: deletion