Background: Skeletal dysplasias are characterised by bone-cartilage involvement and impairment of growth and body proportions. Reports of the benefits of GH treatment are difficult to evaluate for the small number of subjects, short period of treatment, few final height (FH) data in groups with and without GH deficiency (GHD).
Objective and hypotheses: The aim of our study was to assess FH and body proportions in pts with skeletal dysplasia and GHD.
Method: We studied 24 patients treated with GH (2530 μg/kg per day) for 6.5±3 years: six patients with achondroplasia (ACH), four with hypochondroplasia (HCH), four with pseudoachondroplasia (PSACH), three with spondylo-epiphyseal dysplasia congenital (SEDC), four with spondylo-epi-metaphyseal dysplasia (SEMD) and three with Leri-Weill dyschondrosteosis (LWD).
Results: At the beginning of therapy mean age was 7.3±3 years and at FH was 16.3±1.6 years. At FH, mean SDS height gain (HG) was positive only in HCH (0.2±1.1 SD) and LWD (0.5±0.75 SD). At multiple regression analysis SDS-HG was related to treatment duration (P<0.0001) and growth velocity at the 1st yr of therapy (P<0.009). At FH mean SDS sitting height (SH) was significant lower than baseline in ACH (−1±1.3 SD) and in HCH (−0.3±1.4 SD), while mean SDS subischial leg lenght (SLL) was significantly higher than pre-therapy in ACH (0.9±1.8 SD), HCH (0.5±1.4 SD) and LWD (0.7±1.9 SD). Pre-therapy mean IGFI was −0.3±1.2 SD, at the 1st year of treatment 1±0.9 SD and at FH 0.7±1 SD.
Conclusion: In HCH GH therapy mildly impoved FH and body proportions, in LW enhanced FH, in ACH only body proportions were improved. SEMD, SEDC and PSACH pts had no HG and should not be treated. Waiting for new pharmacological treatments for FGFR3 related conditions, GH therapy, in presence of GHD, should be considered in HCH and in ACH associated with surgical lengthening of limbs, to improve FH and body proportions.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology