ESPE Abstracts

Background/aims: Temple syndrome (TS14) is a rare imprinting disorder caused by maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or by an isolated methylation defect. TS14 is considered a Prader-Willi-like (PWL) disorder. Some patients with TS14 are treated with growth hormone (GH). However, evidence for the effectiveness of GH-treatment in patients with TS14 is very limited.

Methods: Seven patients with TS14 were included in a prospective GH study. We measured height and weight, and body composition by DXA scan. Of four additional patients, height and weight measurements were retrospectively collected.

Results: The median (IQR) age of the patients was 5.79 (4.71; 7.43). Median (IQR) height SDS at start was -1.35 (-2.95; -0.02) and after one year of GH treatment -0.50 (-1.50; 0.13). Height-SDS increased significantly (P=0.008). This increase was most notable in the first six months of treatment. Fat mass (FM) SDS did not significantly decrease and lean body mass (LBM) SDS did not significantly increase during one year of GH treatment. In patients below the age of 7 at the start of GH treatment, LBM SDS did increase significantly during the first six months of treatment (P=0.043).

Conclusion: Growth hormone treatment for one year improves height SDS in patients with TS14. FM SDS and LBM SDS did not change significantly during one year of GH, but LBM SDS did show a tendency towards improvement. The change in LBM SDS was more pronounced in patients below the age of 7 years at GH start. Our findings demonstrate that early diagnosis and early start of GH treatment is important for patients with TS14.