{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T22:09:39Z","timestamp":1792879779336,"version":"4.5.0"},"reference-count":41,"publisher":"The Endocrine Society","issue":"9","license":[{"start":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T00:00:00Z","timestamp":1734480000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["20ek0109373"],"award-info":[{"award-number":["20ek0109373"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["23ek0109587"],"award-info":[{"award-number":["23ek0109587"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["22K07858"],"award-info":[{"award-number":["22K07858"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007786","name":"National Center for Child Health and Development","doi-asserted-by":"publisher","award":["2019B-4"],"award-info":[{"award-number":["2019B-4"]}],"id":[{"id":"10.13039\/100007786","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007786","name":"National Center for Child Health and Development","doi-asserted-by":"publisher","award":["2022B-5"],"award-info":[{"award-number":["2022B-5"]}],"id":[{"id":"10.13039\/100007786","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016211","name":"Naito Science & Engineering Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016211","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Japanese Society for Pediatric Endocrinology Future Development"},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,8,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Temple syndrome (TS14) is a rare 14q32.2-related imprinting disorder. Here we report comprehensive clinical findings in TS14.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Small for gestational age, postnatal (\u223c2 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 \u22123.4 to \u22122.4, 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 \u22656 years, diabetes mellitus in 12.8% of patients aged \u22659 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgae883","type":"journal-article","created":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T15:31:49Z","timestamp":1734449509000},"page":"e3041-e3051","source":"Crossref","is-referenced-by-count":14,"title":["Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients"],"prefix":"10.1210","volume":"110","author":[{"given":"Tomoe","family":"Ogawa","sequence":"first","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo 157-8535 ,","place":["Japan"]},{"name":"Department of Advanced Pediatric Medicine, Tohoku University School of Medicine , Tokyo, 157-8535 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,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6632-7426","authenticated-orcid":false,"given":"Akie","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo 157-8535 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9971-4035","authenticated-orcid":false,"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo 157-8535 ,","place":["Japan"]},{"name":"Division of Diversity Research, National Research Institute for Child Health and Development , Tokyo 157-8535 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