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Korean J Pediatr > Accepted Articles
Endocrinology
DOI: https://doi.org/10.3345/kjp.2018.06842    [Accepted]
Published online December 3, 2018.
Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome
Kyo Jin Jo1, Yoo Mi Kim2, Ju Young Yoon1, Yeoun Joo Lee1, Young Mi Han1, Han-Wook Yoo3, Hyang-Sook Kim4, Chong Kun Cheon1,4 
1Department of Pediatrics, Pusan National University Children’s Hospital, Yangsan, Korea
2Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea
3Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea
4Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea
Correspondence:  Chong Kun Cheon, Tel: +82-55-360-3158, Fax: +82-55-360-2181 , 
Email: chongkun@pusan.ac.kr
Received: 1 August 2018   • Revised: 15 November 2018   • Accepted: 3 December 2018
Abstract
Purpose
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.
Methods
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.
Results
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.
Conclusions
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.
Key Words: Noonan syndrome, Recombinant human growth hormone, Mutations


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