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

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

  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
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)