Table 1. Clinical characteristics of the investigated CD patients.
| Patient | Phenotypic sex | Karyotype | SRY status | Sex reversal | GA | BW (p a ) | BL (p a ) | OFC (p a ) | Survival time | SOX9 Mutation |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Female | NS | SRY − | No | 32 | 1260 (p10) | NS | NS | 1 day | p.Gly263fs277* (PTC) |
| 2 | Male | NS | SRY + | No | 23 b | 632 | 29 | 22.5 | NA | p.Lys151Ter (PTC) |
| 3 | Female | 46, XX | NA | No | NS | 2740 (p50) | 41 (< p10) | 33 (p50) | NS | IVS1-2A > G (splice site) |
| 4 | Female | NS | SRY − | No | 40 b | 2740 (p10–25) | 43 (< p10) | NS | NA | None |
| 5 | Male | NS | SRY + | No | 37 | 2770 (p50) | 44 (p10) | 35 (p90) | Neonatal c | p.Ser41Ter (PTC) |
| 6 | Female | 46, XX | NA | No | 37 | 2830 (p50) | 37 (< p10) | 37 (> p90) | 11 days | p.Gln232Ter (PTC) |
| 7 | Female | 46, XY | NA | Yes | NS | 3150 (p75) | 42 (< p10) | 38 (> p90) | 7 days | None |
| 8 | Female | 46, XX | NA | No | 38 | 3470 (p75–90) | 43.5 (< p10) | 37 (> p90) | Neonatal c | p.His131fs248* (PTC) |
| 9 | Female | NS | SRY − | No | 38 | 2490 (p10–25) | 37 (< p10) | 36.5 (> p90) | 82 days | p.Phe204fs218* (PTC) |
a
Percentile distribution according to gestational age at birth;
b
stillbirth;
c
death within first 3 months, not detailed; BL: birth length (cm); BW: birth weight (g); GA: gestational age (weeks); NA: not applicable; NS: not specified; OFC: birth occipitofrontal circumference; PTC: premature termination codon. Patients were referred from medical institutions from Rio Grande do Sul (1–2), São Paulo (3–8), and Pernambuco (9) Federative States. Retrospective cases (n = 6) corresponded to patients evaluated from years 2000 to 2011, while two patients (2, 8 and 9) were diagnosed prospectively.