Table 1.
Auxological data and 24hour GH profile measured with polyclonal antibodies in 25 with Noonan syndrome (NS) (with PTPN11 mutation (n=16, without n=9) and in 40 with Turner syndrome (TS) (XO in 31 and 9 either mosaicism or isochromosome), compared to children with normal height (n=45).
| Patients | Age (years) | Height (SDS)a | Baseline GH (mU/L) | GH mean (mU/L) | GH max (mU/L) | Peaks(n/24h) | Peak height (mU/L) | AUCb(mU/L 24h) | AUCt(mU/L 24h) |
|---|---|---|---|---|---|---|---|---|---|
|
NS Total
NSPTPN11 NS other genes |
8.3±2.6**(3.1-13.8) 8.6±1.8** (4.9-13.8) 7.1±2.2 (3.1-12.7) |
-2.7±0.8*** (-4.0-(-0.7)) -3.0±0.5 (-4.0-(-2.4)) -2.4±0.7 (-3.3-(-0.7)) |
1.4±0.6** (0.7-2.7) 1.5±0.6 (0.7-2.7) 1.3±0.65 (0.7-2.4) |
6.3±2.0** (3.1-10.8) 6.1±1.4 (3.1-10.8) 6.1±2.2* (3.9-10.0) |
44±23* (14-104) 43±11 (14-103) 41±26 (19-104) |
9.7±2.1* (6-14) 9.7±1.6* (7-12) 9.9±2.6 (6-14) |
14.8±5.5 (6.6-26.8) 13.9±3.4 (6.4-25) 14.8±6.5* (7.5-27) |
117±47* (38.1-227) 111±33(38-227) 113±50 (63-194) |
151±48** (74.3-253) 146±33* (74-253) 145±52 (85-233) |
|
TS Total
TS 45X0 TS mosaic/isochromos |
7.2±2.8 (3.1-13.4) 6.8±2.9 (3.7-13.4) 8.4±2.7 (3.1-11.0) |
-2.8±0.7 (-4.4-(-1.2)) -2.7±0.9 (-4.4-(-1.2)) -3.0±0.45 (-3.9-(-2.3)) |
2.4±3.1 (0.1-17.5) 2.4±3.1 (0.2-17.5) 2.3±3.6 (0.1-11.1) |
7.8±4.0 (2.4-20) 8.2±3.8 (3.0-20) 6.4±4.4 (2.4-16) |
51±47 (14.2-302) 56±52 (16-302) 35±12 (14-54) |
8.6±2.0 (5-12) 8.4±2.0 (6-12) 9.0±2.1 (5-12) |
19.0±9.6 (5.1-56.2) 20±9.9 (5.1-56) 14.9±7.7 (6.3-29) |
131±66.3 (51.3-389) 140±71* (58-389) 100±35 (51-144) |
187±95.4*** (58.7-480) 197±92** (72-480) 154±104 (59-397) |
| Healthy controls | 10.6±1.8 (5.8-13.5) |
0.0±0.9 (-1.5-1.4) |
1.1±1.2 (0.1-6.7) |
5.0±3.0 (1.4-15.5) |
30.1±23.3 (7.4-140) |
8.0±2.5 (4-15) |
14.1±8.0 (4.5-39.0) |
94±56.7 (26.5-306) |
120±73.0 (33.1-379) |
*p < 0.05; **p < 0.01, ***p < 0.001 compared to the healthy control group; a) Swedish references (23).
Results are expressed as mean±SD (range).