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