| Short stature can be divided into proportionate and disproportion-ate short stature according to the clinical manifestations and physical signs,the former such as idiopathic short stature, growth hormone deficiency. The latter may suggest that there is bone and cartilage related diseases, Its clinical manifestations are short stature, skeletal deformity and so on.Short stature related with bone and cartilage diseases(BCD) are various,research on the effect of recombinant human growth hormone(rhGH)therapy is rarely, the aims of this study were to improve the understanding of BCD and determine the efficacy and safety of rhGH treatment in BCD patients by analysis of 33 BCD patients clinical characteristic and the result of genetic evaluation, and research the efficacy and safety of rhGH treatment BCD patients.33 cases of BCD patients who were treated in Endocrinology Dep–artments of Peking Union Medical College Hospital during May 2007 to Dec 2015,including 11 patients with Gene detection were retrospectively analysed. 33 BCD patients were divided into the BCD treatment group(BCD-T) and the untreatment group(BCD-C), 21 cases of growth hormone deficienc(GHD) patients were selected as controls(GHD-T). The BCD-T and GHD-T patients were received rhGH by subcutaneous inject every night. Compared and analyzed following data between before and after follow-ups, as well as between different group, Growth Velocity height,height standard deviation score and other growth indicators. To evaluate the safety of rh GH therapy in BCD patients.33 BCD children with a mean age of 7.74 years old and an initial Ht-SDS was-4.50, including 18 cases of ACH/HCH(54.5%), 5 cases of SED(15.2%), 3 cases of MED and 7 others. 11 BCD patients with genetic testing, all of them were found to had genetic mutation,including each FBN1, FGFR3 and COL2A1 mutations in 2 cases, each COL9A1, NPR2,TRAPPC2, RUNX2 and CENPJ mutations in 1 case. A total of 15 patients in the BCD-T group, mean rhGH dosage was(0.13±0.03)IU/(kg·d) at the beginning, before and after treatment the GV was 3.41cm/y and 7.45cm/y respectively, the Ht-SDS gained 0.35 after 12 month, both of GV and Ht-SDS were significant improved(P<0.05). The BCD-C group did not treatment, GV and Ht-SDS had no change between before and after follow-ups(p>0.05). The mean rhGH dosage of GHD-T group was(0.12±0.02)IU/(kg· d) at the beginning, before and after treatment the GV was3.75cm/y and 10.88cm/y respectively, Ht-SDS increased 1.0 after 12 month,both of GV and Ht-SDS were statistically significant(P<0.05).During the 12 month follow-up period, the GV of BCD-T group was better than BCD-C group(p<0.05), and the effects of rhGH to GHD-T group was better than BCD-T group(p<0.05). The rhGH dosage of the BCD-T group was significantly higher than that of the GHD-T group(p<0.05). IGF-1levels were significantly increased in both BCD-T and GHD-T groups after therapy(p<0.05). No serious adverse reactions occurred during the follow-ups.In conclusion, BCD was in variety, genetic testing can help diagnose.rhGH replacement therapy is useful to improve the Ht-SDS and GV of BCD patients, but the effect is poorer than GHD patients. Long-term safety of rhGH treatment still needs further research. |
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