Table 1 Clinical data of patients
From: Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH
Items | Patient 1 | Patient 2 | Patient 3 [23] | |
|---|---|---|---|---|
Gender | Female | Female | Male | |
Birth weight (kg/percentile) | 2.65 /3rd percentile | 2.9/10th percentile | 3.0/50th percentile | |
Birth height (cm/SDS) | 48/-1.0 | 46/-2.18 | 50/-0.2 | |
Age at diagnosis | 7.6 | 4.5 | 6.0 | |
Height (cm) | 110.2 | 96.3 | 103.7 | |
HSDS | -3.06 | -2.60 | -3.11 | |
Weight (kg/SDS) | 17.5/-0.33 | 14/-0.33 | 16.2/-0.24 | |
Sitting height | 62.2 | 52.2 | ND | |
Sitting height/height (ratio/SDS) | 0.56/2.35 | 0.54/2.36 | ND | |
Bone age (years) | 5.3 | 4.5 | 4.0 | |
Blood hormonal characteristics | Normal value | |||
Peak growth hormone | 7.9 | 25.6 | 7.86 | ≥ 10ng/mL |
IGF1(pg/mL/SDS) | 116/-1.45 | 158/+0.93 | 185/+1.4 | |
IGFBP3 (mg/L) | 3.05 | 4.55 | 3.9 | 0.7 ~ 10 mg/L |