Table 5.
Genotype–phenotype correlations in patients with 21-OHD.
| Group | Genotype | Number of patients | Expected phenotype | Observed phenotype |
|---|---|---|---|---|
| Null | Del/Del | 1 | SW | SW |
| E3 D8 bp/Del | 1 | SW | SW | |
| p.[[Ile236Asn;Val237Glu;Met239Lys];Gln318Ter]/ p.[Ile236Asn; Val237Glu; Met239Lys] | 1 | SW | SV | |
| A | c.290-13A/C > G/Del | 3 | SV/SW | SW |
| [c.290-13A/C > G; p.Ile172Asn]/Del | 1 | SV/SW | SW | |
| c.290-13A/C > G/p.[Ile172Asn; Gln318Ter] | 1 | SV/SW | SW | |
| [c.290-13A/C > G;p.Ile172Asn]/ [c.290-13A/C > G; p.Ile172Asn] | 1 | SV/SW | SW | |
| c.290-13A/C > G/p.Gln318Ter | 2 | SV/SW | SV | |
| B | p.Ile172Asn/Del | 6 | SV | 5 SV, 1 SW |
| c.290-13A/C > G/p.Ile172Asn | 3 | SV | SV | |
| p.Ile172Asn/p.Ile172Asn | 2 | SV | SV | |
| p.Ile172Asn/[c.290-13A/C > G; p.Ile172Asn] | 4 | SV | SV | |
| p.Ile172Asn/p.Gln318Ter | 2 | SV | SV | |
| C | p.Val281Leu/p.Val281Leu | 1 | NC | NC |
| [c.290-13A/C > G; p.Pro30Leu]/p.Pro30Leu | 1 | NC | NC | |
| p.Pro30Leu/[c.290-13A/C > G; p.Ile172Asn] | 1 | NC | NC | |
| p.Pro30Leu/p.Ile172Asn | 1 | NC | NC | |
| c.290-13A/C > G/p.Pro30Leu | 1 | NC | NC | |
| p.Pro30Leu/p.Arg356Trp | 2 | NC | 1 NC, 1 SV | |
| p.Val281Leu/p.Gln318Ter | 1 | NC | NC | |
| p.Ile172Asn/p.Val281Leu | 1 | NC | NC |
SW, salt-wasting form; SV, classical simple virilizing form at birth; NC, non-classical form with late-onset symptoms and diagnosis