{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T10:11:00Z","timestamp":1691575860299},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,8,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2023-0060_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>The 12q14 microdeletion syndrome is a rare genetic condition characterized by intrauterine growth restriction, proportionate short stature, failure to thrive, and\u00a0intellectual disability. Few reports have discussed the therapeutic aspect of patients with 12q14 microdeletion syndrome. Herein, we report the first case of 12q14 microdeletion patient treated with rhGH without growth hormone deficiency.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0060_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>The patient presented with feeding difficulties during infancy, failure to thrive, intellectual disability and subtle dysmorphic facial features. The patient first visited the clinic at 5 years and 3\u00a0months, his height was 91.4\u202fcm (\u22124.9 SD) and weight 10.0\u202fkg (\u22122.86 SD). The growth hormone level was within the normal range. Bone radiological testing revealed no significant abnormalities. Genetic analysis identified a 6.97\u202fMb deletion at the chromosome 12q14.1\u2013q14.3 region in the proband. Recombinant human growth hormone therapy was initiated, which lasted for 12\u00a0months, and the new height was 101.0\u202fcm (\u22124.0 SD) and weight 12.0\u202fkg (\u22123.6 SD).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0060_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This report first showed that patient with 12q14 microdeletion, although without growth hormone deficiency, can benefit from human growth hormone therapy.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2023-0060","type":"journal-article","created":{"date-parts":[[2023,6,7]],"date-time":"2023-06-07T09:30:10Z","timestamp":1686130210000},"page":"798-802","source":"Crossref","is-referenced-by-count":0,"title":["The benefit of rhGH therapy in a Chinese child with 12q14 microdeletion syndrome: a case report"],"prefix":"10.1515","volume":"36","author":[{"given":"Yue","family":"Ping","sequence":"first","affiliation":[{"name":"Zunyi Medical University , Zunyi , China"},{"name":"Department of Neurological Rehabilitation , Guizhou Hospital of Shanghai Children\u2019s Medical Center , S hanghai Jiao Tong University School of Medicine , Guizhou Provincial People\u2019s Hospital , Guiyang , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linyin","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Neurological Rehabilitation , Guizhou Hospital of Shanghai Children\u2019s Medical Center , S hanghai Jiao Tong University School of Medicine , Guizhou Provincial People\u2019s Hospital , Guiyang , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurological Rehabilitation , Guizhou Hospital of Shanghai Children\u2019s Medical Center , S hanghai Jiao Tong University School of Medicine , Guizhou Provincial People\u2019s Hospital , Guiyang , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yihua","family":"Ge","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, Shanghai Children\u2019s Medical Center , Shanghai Jiao Tong University School of Medicine , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiping","family":"Shen","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics , Boston Children\u2019s Hospital, Harvard Medical School , Boston , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Zhou","sequence":"additional","affiliation":[{"name":"Zunyi Medical University , Zunyi , China"},{"name":"Department of Neurological Rehabilitation , Guizhou Hospital of Shanghai Children\u2019s Medical Center , S hanghai Jiao Tong University School of Medicine , Guizhou Provincial People\u2019s Hospital , Guiyang , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,6,8]]},"reference":[{"key":"2023080909320498301_j_jpem-2023-0060_ref_001","doi-asserted-by":"crossref","unstructured":"Menten, B, Buysse, K, Zahir, F, Hellemans, J, Hamilton, SJ, Costa, T, et al.. Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. J Med Genet 2007;44:264\u20138. https:\/\/doi.org\/10.1136\/jmg.2006.047860.","DOI":"10.1136\/jmg.2006.047860"},{"key":"2023080909320498301_j_jpem-2023-0060_ref_002","doi-asserted-by":"crossref","unstructured":"Deng, R, McCalman, MT, Bossuyt, TP, Barakat, TS. Case report: two new cases of chromosome 12q14 deletions and review of the literature. Front Genet 2021;12:716874. https:\/\/doi.org\/10.3389\/fgene.2021.716874.","DOI":"10.3389\/fgene.2021.716874"},{"key":"2023080909320498301_j_jpem-2023-0060_ref_003","doi-asserted-by":"crossref","unstructured":"Li, O, Li, J, Droge, P. Dna architectural factor and proto-oncogene hmga2 regulates key developmental genes in pluripotent human embryonic stem cells. FEBS Lett 2007;581:3533\u20137. https:\/\/doi.org\/10.1016\/j.febslet.2007.06.072.","DOI":"10.1016\/j.febslet.2007.06.072"},{"key":"2023080909320498301_j_jpem-2023-0060_ref_004","doi-asserted-by":"crossref","unstructured":"Federico, A, Forzati, F, Esposito, F, Arra, C, Palma, G, Barbieri, A, et al.. Hmga1\/hmga2 double knock-out mice display a \u201csuperpygmy\u201d phenotype. Biol Open 2014;3:372\u20138. https:\/\/doi.org\/10.1242\/bio.20146759.","DOI":"10.1242\/bio.20146759"},{"key":"2023080909320498301_j_jpem-2023-0060_ref_005","doi-asserted-by":"crossref","unstructured":"Mari, F, Hermanns, P, Giovannucci-Uzielli, ML, Galluzzi, F, Scott, D, Lee, B, et al.. Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. Eur J Hum Genet 2009;17:1141\u20137. https:\/\/doi.org\/10.1038\/ejhg.2009.27.","DOI":"10.1038\/ejhg.2009.27"},{"key":"2023080909320498301_j_jpem-2023-0060_ref_006","doi-asserted-by":"crossref","unstructured":"Buysse, K, Reardon, W, Mehta, L, Costa, T, Fagerstrom, C, Kingsbury, DJ, et al.. The 12q14 microdeletion syndrome: additional patients and further evidence that hmga2 is an important genetic determinant for human height. Eur J Med Genet 2009;52:101\u20137. https:\/\/doi.org\/10.1016\/j.ejmg.2009.03.001.","DOI":"10.1016\/j.ejmg.2009.03.001"},{"key":"2023080909320498301_j_jpem-2023-0060_ref_007","doi-asserted-by":"crossref","unstructured":"Lynch, SA, Foulds, N, Thuresson, AC, Collins, AL, Anneren, G, Hedberg, BO, et al.. The 12q14 microdeletion syndrome: six new cases confirming the role of hmga2 in growth. Eur J Hum Genet 2011;19:534\u20139. https:\/\/doi.org\/10.1038\/ejhg.2010.215.","DOI":"10.1038\/ejhg.2010.215"},{"key":"2023080909320498301_j_jpem-2023-0060_ref_008","doi-asserted-by":"crossref","unstructured":"Nso-Roca, AP, Marco, FC, Ricote, J, Baron, DA. Endocrinological anomalies in a patient with 12q14 microdeletion syndrome. Completing phenotype of this exceptional short stature condition. J Pediatr Endocr Met 2014;5\u20136:539\u201343. https:\/\/doi.org\/10.1515\/jpem-2013-0239.","DOI":"10.1515\/jpem-2013-0239"},{"key":"2023080909320498301_j_jpem-2023-0060_ref_009","doi-asserted-by":"crossref","unstructured":"Fischetto, R, Palumbo, O, Ortolani, F, Palumbo, P, Leone, MP, Causio, FA, et al.. Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature. Am J Med Genet A 2017;173:1922\u201330. https:\/\/doi.org\/10.1002\/ajmg.a.38253.","DOI":"10.1002\/ajmg.a.38253"},{"key":"2023080909320498301_j_jpem-2023-0060_ref_010","doi-asserted-by":"crossref","unstructured":"Maghnie, M, Ranke, MB, Geffner, ME, Vlachopapadopoulou, E, Ibanez, L, Carlsson, M, et al.. Safety and efficacy of pediatric growth hormone therapy: results from the full kigs cohort. J Clin Endocr Metab 2022;107:3287\u2013301. https:\/\/doi.org\/10.1210\/clinem\/dgac517.","DOI":"10.1210\/clinem\/dgac517"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2023-0060\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2023-0060\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T09:33:11Z","timestamp":1691573591000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2023-0060\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,8]]},"references-count":10,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2023,6,22]]},"published-print":{"date-parts":[[2023,8,28]]}},"alternative-id":["10.1515\/jpem-2023-0060"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2023-0060","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,8]]}}}