To report comprehensive clinical findings and implications for diagnosis and management of Temple syndrome (TS14) in a cohort of 60 genetically confirmed Japanese patients, emphasizing the need for tailored therapeutic strategies.
Key Findings:
88.3% of patients were small for gestational age, indicating significant prenatal growth challenges.
87.0% exhibited postnatal short stature, highlighting ongoing growth issues.
86.0% experienced central precocious puberty, necessitating early intervention.
21.6% had intellectual and developmental disabilities, indicating a need for educational support.
20.0% were obese, and 26.5% had hypercholesterolemia, pointing to metabolic health concerns.
12.8% of patients aged ≥9 years had diabetes mellitus, emphasizing the importance of monitoring metabolic conditions.
42.9% were enrolled in special classes during childhood, reflecting the educational needs of affected individuals.
Interpretation:
The findings provide a detailed clinical profile of TS14, highlighting growth, developmental, and metabolic challenges, and suggest specific therapeutic interventions such as growth hormone therapy and management of precocious puberty.
Limitations:
The study is limited to a specific population (Japanese patients), which may affect generalizability to other ethnic groups.
Long-term outcomes and comprehensive assessments of thyroid function and sensory capabilities were not fully explored, potentially overlooking critical aspects of patient health.
Conclusion:
This study clarifies the clinical characteristics of TS14 and proposes an efficient diagnostic and management approach for affected patients, underscoring the need for ongoing research to enhance understanding and treatment.
