A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature

Table 2 Summary of the reports on GH axis evaluation and treatment in patients with TRPS I

	Patients (gender)	Genetic diagnosis	GH status	Chronological age at GH start	Bone age at GH start	Pubertal staging	GH dose mg/kgnwk	Height SDS change
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
Naselli et al. 1998 [11]	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
Stagi et al. 2008 [13]	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
Sarafoglou et al. 2010 [14]	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
Sohn et al. 2012 [12]	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)

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