Table 3.
Patients with ACAN variant treated with growth hormone
| N | Gender | ACAN Variant | GH starting age (y) | Initial Height (SDS) | GH dosage | 1st year growth ΔSDS | GH duration (y) | Additional treatment | Average growth ΔSDS/y | Latest Height (SDS) | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| van der Steen M, et al. (2017) | |||||||||||
| 1 | Female | c.1608C > A (p.Tyr536*) | 5.0 | −3.7 | 1-2 mg/m2/d | + 0.7 | 9 | GnRHa for 1.5 y | −0.0 | − 3.9 (AH) | |
| 2 | Male | c.1608C > A (p. Tyr536*) | 11.9 | −2.4 | 2 mg/m2/d | + 0.7 | 3.5 | GnRHa for 2 y | + 0.2 | −1.6 | |
| 3 | Male | c.7090C > T (p.Gln2364*) | 11.7 | −2.7 | 2 mg/m2/d | + 0.1 | 5.6 | GnRHa for 2 y | −0.0 | −2.9 | |
| 4 | Male | c.4762_4765del (p.Gly1588fs) | 12.3 | −2.7 | 1 mg/m2/d | 0 | 6.2 | GnRHa for 2 y | + 0.0 | −2.6 (AH) | |
| Gkourogianni A, et al. (2017) | |||||||||||
| 1 | Male | c.272delA (p.Arg93Alafs*) | 8.7 | −3.3 | 30-50 μg/kg/d | + 0.8 | 2.6 | Along with aromatase inhibitor | + 0.2 | −2.7 | |
| 2 | Male | c.272delA (p.Arg93Alafs*) | 6.3 | −1.8 | 30-50 μg/kg/d | + 0.2 | 2.4 | + 0.1 | −1.6 | ||
| 3 | Female | c.7064 T > C (p.Leu2355Pro) | 12.0 | −3.2 | 30-50 μg/kg/d | −0.5 | 1.5 | Along with GnRHa | −0.5 | −3.9 (AH) | |
| 4 | Male | c.5391 (p.Gly1797Glyfs*) | 6.2 | −2.6 | 30-50 μg/kg/d | + 0.6 | 1.0 | + 0.3 | −2.0 | ||
| 5 | Female | c.7429G > A (p.Val2417Met) | 11.3 | −0.8 | 30-50 μg/kg/d | −0.2 | 1.1 | Along with GnRHa | −0.3 | −1.1 | |
| 6 | Female | c.7429G > A (p.Val2417Met) | 5.5 | −1.2 | 30-50 μg/kg/d | + 0.4 | 3.8 | + 0.1 | −0.7 | ||
| 7 | Female | c.1443G > T (p.Glu415*) | 8.5 | −1.7 | 30-50 μg/kg/d | + 0.6 | 2.1 | GnRHa for 1 y | + 0.6 | −0.5 | |
| 8 | Male | c.1443G > T (p.Glu415*) | 5.7 | −1.7 | 30-50 μg/kg/d | + 0.2 (0.5y) | 0.5 | + 0.4 | −1.5 | ||
| 9 | Female | c.1443G > T (p.Glu415*) | 8.4 | −0.7 | 30-50 μg/kg/d | + 0.2 (0.8y) | 0.8 | + 0.3 | −0.5 | ||
| 10 | Female | c.1443G > T (p.Glu415*) | 3.2 | −3.0 | 30-50 μg/kg/d | + 0.7 (0.8y) | 0.8 | + 0.9 | −2.3 | ||
| 11 | Female | c.4657G > T (p.Glu1553*) | 8.7 | −2.9 | 30-50 μg/kg/d | + 0.3 (0.8y) | 0.8 | + 0.4 | −2.6 | ||
| 12 | Male | c.223 T > C (p.Trp75Arg) | 5.5 | −2.0 | 30-50 μg/kg/d | + 0.7 | 1.0 | + 0.7 | −1.3 | ||
| 13 | Female | c.223 T > C (p.Trp75Arg) | 8.3 | −1.9 | 30-50 μg/kg/d | + 0.7 | 1.0 | + 0.7 | −1.2 | ||
| 14 | Male | c.1425delA (p.Val478Serfs*) | 7.4 | −2.9 | 30-50 μg/kg/d | + 0.4 | 3.0 | + 0.4 | −1.7 | ||
| Present study | |||||||||||
| 1 | Female | c.7465 T > C (p.Gln2364Pro) | 5.6 | −2.09 | 40 μg/kg/d | + 0.33 | 3.9 | GnRHa for 2 y | + 0.26 | −1.07 | |
| 2 | Male | c.7465 T > C (p.Gln2364Pro) | 7.8 | −0.88 | 50 μg/kg/d | + 0.27 | 5.0 | GnRHa for 1 y | + 0.11 | −0.31 | |
| 3 | Male | c.7465 T > C (p.Gln2364Pro) | 6.4 | −3.74 | 60 μg/kg/d | + 0.23 | 7.7 | −0.0 | −3.75 | ||
GH growth hormone, SDS standard deviation score, GnRHa gonadotropin releasing hormone agonist, AH adult height