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- W2013428209 abstract "<b><i>Background/Aims:</i></b> The objective of this study was to evaluate the efficacy of recombinant human growth hormone (rhGH) therapy and the influence of genotype on the response to rhGH therapy in children with Noonan syndrome (NS). <b><i>Methods:</i></b> 14 male and 4 female subjects with NS with short stature, whose height was <3rd percentile, were included. The rhGH was subcutaneously administered at a dose of 66 µg/kg/day. Mutations in the <i>PTPN11</i> gene were identified in 10 subjects (55.6%). Mutations in the <i>SOS1 </i>(2 children, 11.1%), <i>MEK1 </i>(1 child, 5.6%) and <i>KRAS</i> (1 child, 5.6%) genes were also found. <b><i>Results:</i></b> Height SDS increased from –2.8 ± 0.9 at the start of rhGH therapy to –2.0 ± 0.9 12 months later (p < 0.001). Height velocity increased from 5.0 ± 0.9 cm/year in the year before treatment to 8.9 ± 1.6 during treatment (p < 0.001). Changes in height SDS, height velocity, and serum IGF-1 level did not differ significantly between those children with or without <i>PTPN11</i> mutations. <b><i>Conclusion:</i></b> The rhGH therapy significantly improved the growth velocity and increased the serum IGF-1 level. Long-term correlation between genotype and rhGH therapy responsiveness needs to be addressed in a large population." @default.
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- W2013428209 date "2012-01-01" @default.
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- W2013428209 title "Response to Growth Hormone Therapy in Children with Noonan Syndrome: Correlation with or without <b><i>PTPN11</i></b> Gene Mutation" @default.
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- W2013428209 doi "https://doi.org/10.1159/000339677" @default.
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