| Objective: To evaluate the therapeutic effect of Chinese domestic recombinant human growth hormone (r-hGH) in children with idiopathic short stature (ISS), and detect the hotspot mutation of SHOX gene in children with ISS, growth hormone deficiency (GHD) and Turner syndrome (TS). Method: The studies comprised of 30 children with ISS who were treated with Chinese domestic r-hGH therapy for 6 months, the dosage 0.15 IU/(kg·d), and compared with 68 cases of GHD, the dosage 0.1 IU/(kg·d). The height, body weight, bone age, were examined before and after 3, 6 months of the treatment.The hotspot mutation of SHOX gene of all the 136 children with short stature (62 cases of ISS, 68 GHD, 6 TS) were detected. A simple method PCR-SSP was used. According to the DNA sequence to design the special primers for PCR, samples of genotypes were analyzed by common gel electrophoresis.Results: (1) The growth velocities after 3, 6 months of therapy were significantly increased compared with pretreatment in chidren with ISS, from 3.5±2.1 cm/year before treatment to 7.3±2.9 cm/year and 7.5±2.7 cm/year after 3 and 6 months of therapy, but the effect is not as good as the GHD patients. (2) Three silent mutations C674T at exon 4 in SHOX gene were detected in 62 cases of ISS. One of the three is homozygous, the other two are heterozygous. SHOX gene defect was detected in 1 case among 6 TS patients.Conclusion: (1) The treatment of Chinese domestic r-hGH in children with ISS is safe and effective, the growth velocities increased from 3.5±2.1 cm/year before treatment to 7.3±2.9 cm/year and 7.5±2.7 cm/year after 3 and 6 months of therapy, but the effect is not as good as that of the GHD patients. 2 SHOX gene mutation was found in 3 cases among 62 chidren with ISS, the mutation frequency 4.84%. SHOX gene defect was found in 1 case among 6 TS patients.SHOX gene mutation is not a common cause of short stature.
|
PDF Full Text Request