Abstract
Background/Aims: 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). Methods: 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 g/kg/day. Mutations in the PTPN11 gene were identified in 10 subjects (55.6%). Mutations in the SOS1 (2 children, 11.1%), MEK1 (1 child, 5.6%) and KRAS (1 child, 5.6%) genes were also found. Results: Height SDS increased from –2.8 8 0.9 at the start of rhGH therapy to –2.0 8 0.9 12 months later (p ! 0.001). Height velocity increased from 5.0 8 0.9 cm/year in the year before treatment to 8.9 8 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 PTPN11 mutations.
Highlights
Proportionate short stature is well recognized as one of the key features of Noonan syndrome (NS) and has been reported in more than 80% of patients affected by NS
The objective of this study was to evaluate the efficacy of recombinant human growth hormone therapy and the influence of genotype on the response to rhGH therapy in children with Noonan syndrome (NS)
Height-SDS increased from -2.8±0.9 at the start of rhGH therapy to -2.0±0.9 12 months later (P
Summary
Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 Gene mutation. Yoo-Mi Kim1*, Jin-Ho Choi, Beom Hee Lee, Chang-Woo Jung, Hye Young Jin, Jae-Min Kim, Gu-Hwan Kim, Jin Soon Hwang, Sei Won Yang, Jin Lee, Han-Wook Yoo. Aims Noonan syndrome (NS) (MIM 163950) is an autosomal dominant disorder characterized by postnatal short stature, congenital heart disease, early feeding difficulties, mild learning disabilities, and characteristic facial dysmorphisms, short and webbed neck, and chest deformities. Proportionate short stature is well recognized as one of the key features of NS and has been reported in more than 80% of patients affected by NS. 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)
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