Introduction
Temple syndrome (TS14) is a genetic imprinting disorder caused by abnormalities at the chromosome 14q32.2 region. It is characterized by a multi-system growth failure and endocrine dysfunction. Despite its distinctive features overlapping with Silver-Russell syndrome (SRS) and Prader-Willi syndrome (PWS), Temple syndrome remains under-recognised and frequently misdiagnosed or diagnosed late. This delay impedes timely intervention and management of its complex manifestations. The largest cohort study to date, conducted across specialist centers in the United Kingdom and The Netherlands, comprehensively delineates the endocrine and clinical phenotype of TS14, evaluates the efficacy of growth hormone (GH) therapy, and introduces a TS14-specific clinical scoring system to aid in earlier diagnosis and treatment initiation.
