hrp0095p1-505 | Growth and Syndromes | ESPE2022
, Trueba-Timmermans Demi
, Kerkhof Gerthe
, Hokken-Koelega Anita
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: ...