Table 2. Weight related parameters of subjects carrying (heterozygote) NR5A1 mutations.
| Subject | Karyotype | NR5A1 mutation(s) | Gestationalage at birth | Birth weight | Current age | Actual weight | BMI | |||||
| (weeks) | (g) | (SD) | (y, m) | (kg) | (SD) | (kg/m2) | (SD) | |||||
| Present study ( Figure 1 ) | ||||||||||||
| F1, II.1 | 46,XY | Glu7Stop;Thr296Met | 31 | 1430 | −0.83 | 3 y 1 m | 16.30 | 0.59 | 17.80 | 1.39 | ||
| F2, II.1 | 46,XY | His408Profs*159 | 40 | 3200 | −0.76 | - | - | - | - | - | ||
| F3, II.1 | 46,XY | Arg313Cys | 38 | 2630 | −1.77 | - | - | - | - | - | ||
| F4, II.1 | 46,XY | Arg313Cys | 36 | 2470 | −0.75 | 1 y 10 m | 12.70 | 0.30 | 15.30 | −0.26 | ||
| F4, II.2 | 46,XY | Arg313Cys | 36 | 1390 | −4.87 | 1 y 10 m | 13.00 | 0.57 | 15.40 | −0.47 | ||
| F2, I.1_Fa | 46,XY | His408Profs*159 | - | - | - | 32 y | 80.00 | - | 27.00 | 0.50 | ||
| F4, I.1_Fa | 46,XY | Arg313Cys | - | - | - | 30 y | 90.00 | - | 26.60 | 0.40 | ||
| Patients from Camats et al. ( Table 1 , Ref. 11) | ||||||||||||
| 1 | 46,XY | Val20Leu | 41 | 2970 | −1.90 | 5 y | 21.80 | 0.80 | 15.30 | 0 | ||
| 2 | 46,XY | His24Tyr | 40 | 3600 | 0 | 17 y | 85.00 | - | 25.70 | 1.33 | ||
| 5 | 46,XY | Gly90Arg | 40 | 3100 | −1.28 | 14 y 6 m | 51.40 | 0 | 19.70 | 0.04 | ||
| 6 | 46,XY | Pro130ArgfsX165 | - | - | - | 1 y | 8.90 | −1.15 | 15.90 | −0.69 | ||
| 7 | 46,XY | Gln206ThrfsX20 | 41 | 3820 | 1.21 | 5 y | 26.30 | 2.90 | 21.70 | 2.81 | ||
| 8 | 46,XY | Leu231_Leu233dup | 40 | 3280 | −0.67 | 5.5 y | 28.00 | 2.85 | 21.40 | 2.45 | ||
| 9 | 46,XX | Pro235Leu | - | - | - | 19 y | 58.00 | - | 24.00 | 0.60 | ||
| 1_Fa | 46,XY | Val20Leu | - | - | - | 32 y | 71.00 | - | 24.00 | 0.84 | ||
| 5_Mo | 46,XX | Gly90Arg | - | - | - | 35 y | 63.00 | - | 23.40 | 0.76 | ||
F: family; Fa: father; Mo: mother.