ArticleThe Journal of clinical endocrinology and metabolism2025
Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.
Article in The Journal of clinical endocrinology and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Diagnosis and management of Silver-Russell syndrome: second international consensus statement.Nature reviews. Endocrinology · 2026Review
- Dlk1-deficient mice achieve puberty despite low body weight and low levels of leptin and kisspeptin.Journal of neuroendocrinology · 2026Article
- Growth hormone therapy in children with temple syndrome: the first retrospective study in China.BMC pediatrics · 2026Article
- Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.The Journal of clinical endocrinology and metabolism · 2025Article
- Maternal-fetal conflict and the timing of birth.Evolution, medicine, and public health · 2025Review
Corrections and comments
- Erratum issued
Authors and funding
11 authors.
Funding
Abstract
objectiveTemple syndrome (TS14) is a rare 14q32.2-related imprinting disorder. Here we report comprehensive clinical findings in TS14.
methodsWe obtained detailed clinical findings in 60 Japanese patients with genetically confirmed TS14, using a questionnaire to attending physicians. The 60 patients consisted of 31 with maternal uniparental disomy 14 [UPD(14)mat], 22 with epimutation, 5 with deletions, and 2 with UPD(14)mat or epimutation.
resultsSmall for gestational age, postnatal (∼2 years of age) short stature, and central precocious puberty (CPP) were identified in 88.3%, 87.0%, and 86.0% of patients, respectively. GH therapy was performed in 32 patients, increasing the median height SD score for height from -3.4 to -2.4, and GnRH analog therapy was performed in 32 patients, ameliorating CPP. Furthermore, the survey showed intellectual and developmental disabilities in 21.6% of patients, neurodevelopmental disorders in 21.6% of patients, obesity in 20.0% of patients, hypercholesterolemia in 26.5% of patients aged ≥6 years, diabetes mellitus in 12.8% of patients aged ≥9 years, and Silver-Russell syndrome-like and/or Prader-Will syndrome-like phenotypes in 87.7% of patients in infancy. Notably, 42.9% of patients were enrolled in special classes in childhood, whereas 98.2% of patients attended college or had jobs in adulthood. Hypercholesterolemia and diabetes mellitus were observed before the development of obesity in a substantial fraction of TS14 patients and were controlled by oral medications in most affected patients.
conclusionThese 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.
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