Temple syndrome in Chinese children: a case series and literature review
- 1Department of Endocrinology, Children’s Hospital of Nanjing Medical University
- 2Department of Neonatology, Children’s Hospital Affiliated to Shandong University
- 3Nanjing Key Laboratory of Pediatrics, Children’s Hospital of Nanjing Medical University
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.
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BibTeX
@article{yuan2026temple,
title = {{Temple syndrome in Chinese children: a case series and literature review}},
author = {Yeqing Yuan and Yunchong Chen and Ziyang Zhu and Chen Liu and Bixia Zheng and Wei Zhou and Chunli Wang and Wei Gu and Su Wu},
journal = {Frontiers in Endocrinology},
year = {2026},
month = oct,
doi = {10.3389/fendo.2026.1871637},
url = {https://www.frontiersin.org/articles/10.3389/fendo.2026.1871637/full},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Temple syndrome in Chinese children: a case series and literature review
AU - Yeqing Yuan
AU - Yunchong Chen
AU - Ziyang Zhu
AU - Chen Liu
AU - Bixia Zheng
AU - Wei Zhou
AU - Chunli Wang
AU - Wei Gu
AU - Su Wu
PY - 2026
DA - 2026/10/19
JO - Frontiers in Endocrinology
DO - 10.3389/fendo.2026.1871637
UR - https://www.frontiersin.org/articles/10.3389/fendo.2026.1871637/full
AB - 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.
SN - 1664-2392
ER -