Table 1.
Comparison of clinical and biochemical features among the different patient groups
| Group 1 subjects with an identified genetic diagnosis (n = 80) | Group 2 subjects without an identified genetic diagnosis(n = 69) | Group 3 patients with known variants in the GH–IGF-I axis (n = 45) | Group 4 overlapping disorders (3M, NS, SRS, CNV, and other syndromes) (n = 35) | P value (95% CI) Group 1 vs Group 2 | P value (95% CI) Group 3 vs Group 4 | |
|---|---|---|---|---|---|---|
| Age (years) | 6.5 (0.1 to 17.0) n = 77 | 7.4 (0.8 to 20.0) n = 67 | 6.9 (1.1 to 16.5) n = 44 | 6.0 (0.1 to 17.0) n = 33 | .3276 (NS) | .5245 (NS) |
| Sex M:F (%) | 48:32 (60:40) | 39:30 (57:43) | 27:18 (60:40) | 21:14 (60:40) | .7396 (NS) | .9999 (NS) |
| Consanguinity | 42 (53%) | 9 (13%) | 29 (64%) | 13 (37%) | <.0001 (****) | .0236 (*) |
| Birth weight SDS | –1.4 (–6.0 to 2.6) n = 71 | –1.0 (–4.6 to 1.6) n = 59 | –0.8 (–6.0 to 2.6) n = 40 | –2.2 (–5.8 to 0.3) n = 31 | .2103 (NS) | .0027 (**) |
| Height SDS | –4.9 (–9.4 to –2.0) n = 78 | –3.4 (–6.3 to –2.1) n = 68 | –5.3 (–8.9 to –2.0) n = 44 | –4.4 (–9.4 to –2.0) n = 34 | <.0001 (****) | .0174 (*) |
| IGF-1 SDS | –2.5 (–8.2 to 2.2) n = 71 | –1.9 (–4.1 to 3.6) n = 58 | –3.0 (–8.2 to 2.2) n = 39 | –2.2 (–4.1 to 4.4) n = 32 | .0384 (*) | .0623 (NS) |
| Peak GH (µg/L) | 57.8 (7.0 to 1195.0) n = 73 | 20.4 (6.9 to 66.9) n = 54 | 81.9 (9.6 to 1195.0) n = 39 | 27.4 (7.0 to 104.3) n = 34 | .0533 (NS) | .1224 (NS) |
GH levels were defined as normal or raised if baseline GH ≥ 10 µg/L and/or peak GH on provocation testing ≥6.7 µg/L. Values in bold represent statistically significant results.
Abbreviations: NS, Noonan syndrome; SRS, Silver–Russell syndrome; CNV, copy number variation.
*P ≤ 0.05; **P ≤ 0.01; ***P ≤ 0.001; ****P ≤ 0.0001. NS, P value not significant (>.05).