Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients
An erratum to this article was published (J Clin Endocrinol Metab, 16 Sep 2025 ↗)
Authors' conclusion
These results clarify the detailed clinical characteristics of TS14. On the basis of these findings, we propose an efficient diagnostic approach and pertinent clinical management for TS14 patients.
Study context
- Population
- Japanese patients with genetically confirmed Temple syndrome (TS14), a rare 14q32.2-related imprinting disorder
- Participants
- 60 patients
- Exposure
- UPDmat vs Epimutation vs Deletions vs UPDmat or epimutation
- UPD(14)matn = 31
- Epimutationn = 22
- Deletionsn = 5
- UPD(14)mat or epimutationn = 2
- Outcome
- Clinical features of TS14
Methodological detailsquestionnaire survey of attending physicians
- Questionnaire survey of attending physicians
Main finding
As reported in the abstract
- SGA
- 88.3%
- Postnatal (∼2 years of age) short stature
- 87.0%
- Central precocious puberty
- 86.0%
- Intellectual and developmental disabilities
- 21.6%
- Neurodevelopmental disorders
- 21.6%
- Obesity
- 20.0%
- Hypercholesterolemia, patients aged ≥6 years
- 26.5%
- DM, patients aged ≥9 years
- 12.8%
- Silver-Russell syndrome-like and/or Prader-Will syndrome-like phenotypes in infancy
- 87.7%
- Enrolled in special classes in childhood
- 42.9%
- Attended college or had jobs in adulthood
- 98.2%
Observational data: associations, not effects.
Further findings
GH therapy (32 patients): median height SD score
- Median height SD score before vs after GH therapy
- −3.4 to −2.4
GnRH analog therapy (32 patients)
- GnRH analog therapy ameliorated central precocious puberty (CPP)
Hypercholesterolemia and DM
- Observed before development of obesity in a substantial fraction; controlled by oral medications in most affected patients
Original publication
Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients. J Clin Endocrinol Metab. Published 18 December 2024. doi:10.
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