|
Naselli et al. 1998 [11]
|
Patient 1 (F)
|
Not reported
|
Deficient, based on GH stim test and IGF1 level, no data
|
11.1 y
|
8–9 y
|
Prepubertal
|
0.23
|
None
|
|
Patient 2 (F)
|
Not reported
|
Deficient, based on GH stim test and IGF1 level, no data
|
11.1 y
|
8–9 y
|
Prepubertal
|
0.23
|
None
|
|
Stagi et al. 2008 [13]
|
Patient 3 (M)
|
Not reported
|
Partial deficiency, Peak after arginine 6.8, after insulin 12.7, low nocturnal GH 2.7
|
12 y
|
9 y 6 m
|
G2, PH2, T4 ml bilaterally
|
0.26
|
+ 0.7 SDS over 5 years
|
|
Patient 4 (M)
|
c2722C > T (p.R908X)
|
Partial deficiency. Peak after Clonidine 10.2, peak after insulin5.4, low nocturnal GH 2.38
|
9 y 9 m
|
7 y8 m
|
Prepubertal
|
0.26
|
+ 1.9 SDS over 7 years
|
|
Sarafoglou et al. 2010 [14]
|
Patient 5 (M)
|
Not reported
|
No deficiency. Low IGF1 and normal IGFBP3
|
7 y
|
~3 y delay
|
Prepubertal
|
0.3–0.43
|
+1.81 SDS over 3 years
|
|
Patient 6 (F)
|
Not reported
|
No deficiency. Low IGF1 and normal IGFBP3
|
6.95 y
|
~ 6 m delay
|
Prepubertal
|
0.34–0.54
|
+1.95 SDS over 2 years
|
|
Sohn et al. 2012 [12]
|
Patient 7 (F)
|
c2520dupT (p.Arg841LysfsX3)
|
Deficient (peak after insulin 3.17 and after L-dopa 5)
|
4 y
|
2.6 y
|
Prepubertal
|
0.2
|
+ 0.4 SD over 10 years
|
|
Patient 8 (M)
|
c1630C > T (p.Arg544X)
|
Not deficient (peak after glucagon 9.86, after L-dopa 9.7)
|
14 y
|
16 y
|
Pubertal
|
Not reported
|
None (1 cm over 6 months)
|
