ஜர்னல் ஆஃப் ஜெனடிக் சிண்ட்ரோம்ஸ் & ஜீன் தெரபி
திறந்த அணுகல்

சுருக்கம்

Height Outcome of the Recombinant Human Growth Hormone Treatment in Subjects with Noonan Syndrome: A Meta-Analysis

Francesco Massart, Silvano Bertelloni, Mario Miccoli and Angelo Baggiani

Children with Noonan Syndrome (NS) present variable growth impairment associated to facial dysmorphology and cardiovascular anomalies. Mutations in several genes of RAS/MAPK signaling pathway have been identified, likely impairing Growth Hormone (GH) sensitivity. If untreated, these patients often remain short in adulthood. Although Recombinant Human GH (rhGH) treatment improves short-term linear growth, poor data on the Final Height (FHt) of rhGH-treated subjects with NS are available. After thorough search of the published literature for pertinent studies, a meta-analysis evaluation of the efficacy and safety of rhGH treatment in NS patients were performed. In total sample (n=885; 70.0% males), administration of rhGH progressively improved height pattern, but relevant catch-up growth was not shown. The rhGH-induced growth improvement appeared until FHt [n=168; –2.151 SDS (95%CI –2.792 to –1.511)]. During 1st year of rhGH treatment, height velocity gain meta-correlated with serum insulin-like growth factor 1 (IGF1) increment [n=31; r=0.685 (95%CI 0.419 to 0.843); P