In:
Hormone Research in Paediatrics, S. Karger AG, Vol. 77, No. 6 ( 2012), p. 388-393
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.
Type of Medium:
Online Resource
ISSN:
1663-2818
,
1663-2826
Language:
English
Publisher:
S. Karger AG
Publication Date:
2012
detail.hit.zdb_id:
2540224-9
