Introduction: Growth hormone (GH) treatment was approved in 2000 for patients with Prader-Willi syndrome (PWS). The main reason for its use was the improvement in body composition. As a result of 2 fatal episodes, it was decided to initiate it from 2 years of age arbitrarily. Average age of real start: 4-6years. GH per se is not a risk factor for mortality in PWS. The 2013 guideline recommends to star it as soon as possible, preferably under 2 years of age, when obesity is established. The main objective of our study is to test the safety and effectiveness of GH treatment in patients with PWS less than 2 years of age (registered in Clinical Trial Govcode: NCT02205450).
Materials and methods: Longitudinal observational study (EPA-PS) during 2 years of 13 patients with PWS who started treatment with GH under 2 years of age.
Results: We analyzed the data of 13 patients (8 boys and 5 girls) with genetic diagnosis of PWS (64.3% deletion, 35.7% maternal uniparental disomy). The average age of onset of GH was 12.3 months (range of 9-20 months). There were no fatal adverse effects. One patient had a serious adverse effect not attributable to GH (published in Am J Case Rep 2017 Gastric Dilatation). We observed a significant decrease in the subscapular and triceps folds (p <0.0001), an increase in height and a decrease trend in body mass index. Regarding psychomotor level, the median age start walking and speaking was 19.47 and 16.93 months, respectively, (clearly lower in those who started GH <15 months and before of classically described).
Conclusions: GH treatment is safe in PWS patients under two years of age and significantly improves their body composition. Those who started GH before 15 months started to walk sooner.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology