摘要：In the present study, the growth response following growth hormone (GH) therapy in prepubertal patients with Noonan syndrome (NS) harboring different genetic mutations was analyzed. Twenty three patients with prepubertal NS were enrolled in the study at Pusan National University Children's Hospital, between March 2009 and July 2017. According to disease-causing genes identified, patients with NS were divided into four groups. Three groups were mutation-positive groups in three genes, PTPN11, RAF1, and SOS1, respectively. Five genes undetected (FGU) group refers to mutation-negative group in five genes, PTPN11, RAF1, SOS1, KRAS, and BRAF. The influence of genotype was retrospectively analyzed by comparing the growth parameters after GH therapy. The mean chronological age at the start of GH treatment was 5.85±2.67 years. At the beginning of GH treatment, height standard deviation score (SDS), growth velocity (GV), and IGF-1 levels were not statistically different among the groups. Among all 23 NS patients, height SDS and serum IGF-1 significantly increased during the 3 years of treatment. GV during the first year of treatment was highest. During the 3 years of GH therapy, PTPN11, RAF1, and SOS1 groups showed less improvement in height SDS, IGF-1 SDS, GV, and less increase in BA/CA ratio than FGU group. The 3-year GH therapy in the 23 prepubertal patients with NS was effective in improving height SDS, GV, and serum IGF-1 levels. FGU group showed a better response to rhGH therapy compared with the detected groups with PTPN11, RAF1, and SOS1 groups.
关键词：Mutations;Noonan syndrome;Recombinant human growth hormone
