ESPE Abstracts

Objectives: This trial (NCT01927861) evaluated the growth-promoting effect and safety of Norditropin® (somatropin; recombinant human growth hormone) in Japanese children with short stature due to Noonan syndrome over four years of treatment.Methods: Pre-pubertal children diagnosed with Noonan syndrome were randomized 1:1 to receive Norditropin® 0.033 mg/kg/day or 0.066 mg/kg/day. Change in...

Context: Maternal uniparental disomy for chromosome 20 (UPD(20)mat) resulting in aberrant expression of imprinted transcripts at the GNAS locus is a poorly characterized condition. Only 10 non-mosaic cases have been studied clinically. These patients presented with pre- and post-natal growth failure and feeding difficulties. The phenotype of these cases overlapped with that of Silver-Russell syndrome (SRS) and small for gestational age-short stature (SGA-SS); however, the etio...