Table 2 Genetic information and response to growth hormone therapy in patients
From: Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH
Age (years) | Duration of GH treatment (years) | Dose of rhGH (IU/kg/d) | Height (cm) | HSDS | Bone age (years) | IGF1 (pg/mL) | IGFBP3 (mg/L) | Genetic information | |
|---|---|---|---|---|---|---|---|---|---|
Patient 1 | 7.6 | 0 | 0.13 | 110.2 | -3.06 | 5.8 | 116 | 3.05 | NPR2 c.1579 C > T,p.Leu527Phe De novo |
8.1 | 0.5 | 0.14 | 115.5 | -2.40 | ND | 176 | 3.03 | ||
8.6 | 1 | 0.15 | 121.0 | -1.78 | 8.0 | 324 | 3.45 | ||
9.1 | 1.5 | 0.16 | 125.0 | -1.56 | 8.6 | 181 | 3.74 | ||
9.6 | 2 | 0.17 | 128.6 | -1.40 | 9.5 | 153 | 3.26 | ||
Patient 2 | 4.5 | 0 | 0.15 | 96.3 | -2.60 | 4.5 | 158 | 4.55 | NPR2 c.2842dupC,p.His948Profs*5 Inherited from the mother |
5 | 0.5 | 0.15 | 101.8 | -2.00 | ND | 383 | 6.58 | ||
5.5 | 1 | 0.14 | 106.7 | -1.58 | 5.6 | 318 | 5.99 | ||
6 | 1.5 | 0.14 | 110.7 | -1.28 | ND | 236 | 7.41 | ||
6.5 | 2 | 0.14 | 114.9 | -0.96 | 6.6 | 292 | 6.39 | ||
Patient 3 | 7.5 | 0 | 0.15 | 110.8 | -3.11 | 4.5 | 185 | 3.90 | NPR2 c.2643 G > A, p.His840Gln* Inherited from the father |
8 | 0.5 | 0.15 | 115.8 | -2.77 | ND | 325 | 5.80 | ||
8.5 | 1 | 0.166 | 119.7 | -2.10 | 6.6 | 369 | 5.94 | ||
9 | 1.5 | 0.17 | 123.8 | -1.87 | 7.3 | 334 | 4.97 | ||
9.5 | 2 | 0.19 | 128.2 | -1.63 | 8.0 | 387 | 5.98 |