Work

Temple syndrome in Chinese children: a case series and literature review

Year: 2026

Type: article

Abstract: Introduction Temple syndrome (TS14) is a rare imprinting disorder caused by aberrations at chromosome 14q32, manifesting as pre- and postnatal growth retardation, delayed motor milestones, and central precocious puberty (CPP). No cohort studies have characterized TS14 in Chinese children. Methods Six patients from two tertiary hospitals in China were included in this study. All patients underwent molecular testing using whole exome sequencing (WES) and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). Their clinical and molecular characteristics were systematically described. Two patients received recombinant human growth hormone (rhGH) therapy, one of whom was treated with long-acting GH. In addition, a structured literature review of TS14 was performed. Results Six patients, all born small for gestational age and exhibiting persistent postnatal growth retardation, were molecularly diagnosed with TS14. In Patient 3, negative WES findings combined with an abnormal MS-MLPA result supported a methylation abnormality as the underlying mechanism. Patient 1 presented with CPP, and patient 3 with rapidly progressive early puberty, whereas patients 4–6 harbored additional molecular findings, including a de novo DYNC1H1 deletion, a YY1 -region deletion, and a homozygous GALC c.1901T>C variant; the findings in patients 4 and 5 may have contributed to blended phenotypes. In patient 1, combined gonadotropin-releasing hormone analog (GnRHa) and rhGH therapy resulted in a height gain of +1.0 standard deviation scores (SDS) over 1.5 years, while patient 3, who received long-acting GH, achieved a height gain of +1.74 SDS over 2.5 years. A review of 167 TS14 cases showed broadly similar core clinical features across ethnicities, although Asian patients exhibited lower rates of facial dysmorphism and obesity. Additional molecular findings, including multilocus imprinting abnormalities and potential blended phenotypes, were also identified in reported cases. Adult heights as low as −3.3 SDS were reported in untreated patients, whereas rhGH ± GnRHa improved growth outcomes but did not consistently normalize adult height. Conclusion This series broadens the clinical characterization of TS14 in Chinese children and highlights the diagnostic value of comprehensive molecular testing, particularly in patients with atypical features. Hormonal treatment may improve growth velocity in selected patients, but long-term benefits, final height outcomes and optimal timing remain uncertain.

Source: Frontiers in Endocrinology

DOI: 10.3389/fendo.2026.1871637