Table 1. Clinical and endocrinological characteristics of patients with NS at baseline.
| No. | Sex | Age (yr) | MPH (cm) | Height SDS | Weight SDS | Growth velocity (cm/yr) | IGF-1 SDS | IGFBP-3 SDS | Heart anomaly | Molecular analysis | Initial dose of rhGH (µg/kg/day) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 9.9 | 173 | –3.61 | –2.68 | 5 | –2.80 | –0.55 | VSD, PS | PTPN11 p.F285S | 69 |
| 2 | M | 6.2 | 170 | –3.17 | –2.17 | 6 | –1.57 | –0.13 | PS, ASD, RVH | PTPN11 p.N308S | 62 |
| 3 | M | 8.9 | 169 | –2.79 | –2.22 | 4 | –3.13 | –0.49 | PDA | PTPN11 p.N308D | 63 |
| 4 | M | 6.1 | 176 | –2.69 | –4.42 | 5 | –1.95 | 0.01 | Normal | PTPN11 p.Y63C | 70 |
| 5 | M | 7.3 | 167.5 | –2.74 | –1.91 | 6 | –2.58 | –0.51 | VSD | PTPN11 p.Y63C | 63 |
| 6 | F | 11.3 | 142 | –3.78 | –1.57 | NA | –0.22 | –0.03 | Normal | PTPN11 p.T21 | 55 |
| 7 | F | 10.4 | 165 | –2.01 | –2.18 | 4 | –1.64 | –0.68 | PS, ASD | PTPN11 p.E139D | 72 |
| 8 | F | 6.1 | 157 | –2.45 | –1.06 | NA | –0.80 | 0.82 | PS | PTPN11 p.N308D | 70 |
| 9 | M | 9.8 | 173 | –1.97 | –1.74 | NA | –1.11 | –0.47 | PS | PTPN11 p.N308D | 50 |
| 10 | M | 6.9 | 170.5 | –2.00 | –3.28 | 5 | –0.92 | –0.39 | VSD, PDA | SOS1 p.E433K | 73 |
| 11 | M | 6.6 | 174.5 | –1.79 | –2.14 | 4 | –0.13 | –0.02 | PDA | None | 63 |
| 12 | M | 7.2 | 171.5 | –2.20 | –1.56 | 4 | –0.36 | 0.43 | Valvar PS | None | 70 |
| 13 | M | 9.3 | 179 | –2.22 | –1.93 | 4 | –1.66 | –0.07 | Normal | SOS1 p.R552G | 67 |
| 14 | M | 7.9 | NA | –2.61 | –3.39 | 6 | –0.68 | –0.11 | Valvar PS | KRAS p.I36M | 66 |
| 15 | F | 5.7 | 158.5 | –3.51 | –7.23 | 4 | 0.29 | –0.10 | PA with VSD, PDA | None | 61 |
NS, Noonan syndrome; MPH, midparental height; SDS, standard deviation score; IGF-1, insulin-like growth factor 1; IGFBP-3, IGF binding protein 3; rhGH, recombinant human growth hormone; VSD, ventricular septal defect; PS, pulmonary stenosis; ASD, atrial septal defect; RVH, right ventricular hypertrophy; PDA, patent ductus arteriosus; NA, not available; PA, pulmonary atresia.