Temple syndrome (TS14) is a rare imprinting disorder caused by dysregulation of imprinted genes in the 14q32 region. Although several cohorts have been reported, pediatric data from China are still lacking. This study aimed to characterize the clinical features in Chinese children with TS14 and evaluate their response to recombinant human growth hormone (rhGH), including outcomes associated with initiating treatment before two years of age. A multicenter retrospective review was conducted involving seven children diagnosed with TS14 across six pediatric centers in China. Clinical characteristics, growth parameters, genetic testing, and treatment outcomes were extracted from medical records. Molecular diagnosis was established by methylation-specific assays, with additional molecular-genetic testing performed as indicated. Changes in height standard deviation score (SDS) were analyzed descriptively. Seven patients (1 male, 6 females) were included, with a median age at diagnosis of 2.0 (IQR: 0.67–7.33) years. Maternal UPD(14) was confirmed in one case and strongly suspected in three cases, whereas in the remaining three cases the underlying mechanism could not be determined. Most patients were small for gestational age (71.4%) and all exhibited growth retardation, delayed language development, dysmorphic features, with feeding difficulties (85.7%), and hypotonia (71.4%). All three older children subsequently developed central precocious puberty. Six patients who were initiated on rhGH therapy before puberty (median age at initiation, 2.42 years), achieved a mean height SDS increase of 1.19 after one year. Among the three patients treated before age two, the mean height SDS gain was 1.15, with caregiver-reported improvements in motor and language development, and no adverse events reported. This inaugural TS14 cohort from China shows clinical features largely consistent with those reported in international cohorts, with a high frequency of precocious puberty among older patients. rhGH therapy yielded substantial short-term gains in height, and initiation of treatment before age two was accompanied by caregiver-reported developmental improvements, although standardized developmental assessments were not available. Early genetic diagnosis and timely intervention are essential, while long-term outcomes require further study.
Wang et al. (Thu,) studied this question.