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Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.

Tomoe Ogawa1,2, Hiromune Narusawa1,3, Keisuke Nagasaki4

  • 1Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.

The Journal of Clinical Endocrinology and Metabolism
|December 18, 2024
PubMed
Summary
This summary is machine-generated.

Temple syndrome (TS14) is a rare imprinting disorder. This study details its clinical findings, including growth issues, puberty, and developmental disorders, and proposes diagnostic and management strategies.

Keywords:
Temple syndromeclinical findingsdiagnostic implicationlong-term coursetherapeutic implication

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Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Temple syndrome (TS14) is a rare imprinting disorder associated with chromosome 14q32.2.
  • Understanding its comprehensive clinical spectrum is crucial for diagnosis and management.

Purpose of the Study:

  • To comprehensively document the clinical findings in a cohort of 60 Japanese patients with genetically confirmed Temple syndrome.
  • To propose an efficient diagnostic approach and clinical management strategies for TS14.

Main Methods:

  • Detailed clinical data were collected from 60 Japanese patients with genetically confirmed TS14 via physician questionnaires.
  • Patient genetic subtypes included UPD(14)mat, epimutation, and deletions.

Main Results:

  • High prevalence of small for gestational age (88.3%), short stature (87.0%), and central precocious puberty (86.0%) was observed.
  • Growth hormone and GnRH analog therapies showed positive effects on height and puberty, respectively.
  • Intellectual disabilities (21.6%), neurodevelopmental disorders (21.6%), obesity (20.0%), hypercholesterolemia (26.5%), and diabetes mellitus (12.8%) were noted. Significant transition from special education to college/employment was observed.

Conclusions:

  • This study clarifies the detailed clinical characteristics of Temple syndrome.
  • The findings support the development of an efficient diagnostic pathway and appropriate clinical management for TS14 patients.