Table 1.
Prevalence of P30L and V281L mutations in different populations and corresponding phenotypes
| Country | Number of alleles | P30L | Form of CAH | V281L | Form of CAH | Reference |
|---|---|---|---|---|---|---|
| Argentina | 908 | 0.9% | NC, SV | 26.2% | NC | Marino et al. [16] |
| Brazil | 960 | 0.6% | SV, NC | 26.6% | NC | de Carvalho et al. [66] |
| Chile | 146 | 0% | 10.5% | SV | Fardella et al. [67] | |
| China | 460 | 0.2% | NC | 0.2% | NC | Wang et al. [78] |
| Czech Republic | 174 | 6.5% | SV, NC | 5.1% | NC | Kotaska et al. [68] |
| Croatia | 186 | 5.9% | SV, NC | 0% | Dumic et al. [69] | |
| Denmark | 136 | 2.2% | NC | 4.4% | NC | Ohlsson et al. [70] |
| Francea | 322 | 3.6% | NC | 55.9% | NC | Bidet et al. [23] |
| Finland | 156 | 0% | 2.6% | NC | Jaaskelainen et al. [19] | |
| Germany | 310 | 2.6% | SV, NC | 2.9% | NC | Krone et al. [37] |
| Greece | 222 | 11.3% | SV, NC | 41.1% | NC | Dracopoulou-Vabouli et al. [71] |
| Italy | 146 | 2.7% | NC | 11% | NC | Carrera et al. [18] |
| Indiab | 124 | 46% | SV | ND | Marumudi et al. [72] | |
| Japanc,d | 30 | 1.5 % | SV, NC | ND | Kashimada et al. [73] | |
| Macedonia | 122 | 19.7% | SV, NC | 2.1% | NC | Anastasovska et al. [63] |
| Mexico | 94 | 8.5% | SV, NC | 8.5% | NC | Ordonez Sanchez et al. [74] |
| Netherlands | 396 | 0.3% | NC | 2.2% | NC | Stikkelbroeck et al. [14] |
| Romania | 66 | 19.7% | SV | 0% | Grigorescu-Sido et al. [75] | |
| Serbia | 122 | 13% | SV, NC | 4.6% | NC, SV | Milacic et al. [62] |
| Spain | 58 | 2.6% | NC | 15.8% | NC | Ezquieta et al. [76] |
| Sweden | 400 | 1.6% | NC | 5.7% | NC | Wedell et al. [77] |
| USA | 3005 | 2.6 % | SV, NC | 23.9% | NC | New et al. [45] |
ND not done
aCohort consist of women with NC only
bOnly investigating classic CAH
cPatients detected on neonatal screening
dIn NC patients clitoromegaly was noted