Patient 1 | Patient 2 | Patient 3 | |||||||
---|---|---|---|---|---|---|---|---|---|
Clinical diagnosis | Genetic diagnosis | Last visit | Clinical diagnosis | Genetic diagnosis | Last visit | Clinical diagnosis | Genetic diagnosis | Last visit | |
Age (years) | 1.25 | 12.33 | 15 | 3.5 | 13 | 14 | 3 | 10.5 | 11.75 |
Height (cm) | 72 | 141.8 | 150 | 89 | 136 | 141.6 | 90 | 137.7 | 148.9 |
Height (SDS) | − 2.26 | − 2.05 | − 1.79 | − 2.97 | − 3.02 | − 3.38 | − 1.48 | − 0.86 | − 0.11 |
Growth velocity (cm/year) | – | 6.30 | 3.07 | – | 4.95 | 5.6 | – | 6.36 | 8.96 |
Weight (Kg) | 9 | 47.5 | 57.5 | 13 | 28.5 | 34 | 15 | 33.1 | 50 |
Weight (P) | 10–25 | 50–75 | 75–90 | 10–25 | < 3 | < 3 | 50–75 | 25–50 | 90–97 |
BMI(kg/m2) | 18.9 | 23.6 | 25.6 | 16.4 | 15.4 | 17.0 | 18.5 | 17.5 | 22.6 |
Sexual development | |||||||||
Stages of breast development | B1 | B3 | B4 | – | – | – | B1 | B2 | B3 |
Testicular volume (ml) | – | – | – | 1 | 3 | 6 | – | – | – |
Bone age (years) | – | – | – | – | – | 13 | – | – | – |
Complete blood count | |||||||||
ANC (× 109/L) | 1.07 | 0.94 | 0.28 | 0.95 | 0.46 | 0.3 | 0.82 | 0.41 | 0.22 |
Liver function | |||||||||
ALT (U/L) | 75 | 10 | 25 | 50 | 37 | 30 | 37 | 28 | 19 |
AST (U/L) | 103 | 12 | 17 | 46 | 28 | 20 | 54 | 30 | 18 |
Blood lipids | |||||||||
TG (mmol/L) | 8.84 | 3.12 | 2.03 | 5.53 | 3.56 | 2.1 | 3.92 | 4.89 | 2.91 |
HDL (mmol/L) | 1.13 | 0.83 | 0.73 | 0.91 | 0.75 | 0.87 | 1.28 | 0.86 | 1.01 |
Glucose metabolism parameters | |||||||||
Fasting glucose (mmol/L) | 3.7 | 2.79 | 3.1 | 3.8 | 2.49 | 4.63 | 3.48 | 3.64 | 6.65 |
Lactic acid (mmol/L) | 8.78 | 6.42 | 6.89 | 10.75 | 11.41 | 3.98 | 9.61 | 4.09 | 4.05 |
Pyruvic acid (umol/L) | 52.8 | 269.1 | 263.4 | 284.7 | 509.3 | 135.2 | 297.4 | 297.4 | 168.1 |
Uric acid (μmol/L) | 281.9 | 674 | 419 | 499 | 537 | 366 | 519 | 522 | 278 |
Blood gases | |||||||||
PH | 7.413 | 7.376 | 7.363 | 7.312 | 7.312 | 7.346 | 7.38 | 7.38 | 7.341 |
BE | − 8.5 | − 5.8 | − 6.4 | − 10.9 | − 10.9 | − 1.1 | − 1.1 | − 1.1 | − 2.8 |
Echocardiography | |||||||||
Liver size (cm) | 4 | 8.8 | 2 | 5 | 8 | 4.5 | 9 | 8 | 7 |
Kidney | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal |