{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T10:39:32Z","timestamp":1787740772182,"version":"build-2784847793"},"reference-count":46,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,9,13]],"date-time":"2017-09-13T00:00:00Z","timestamp":1505260800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Primary hyperparathyroidism (<jats:styled-content style=\"fixed-case\">PHPT<\/jats:styled-content>) in children is thought to be extremely rare. Our study aimed to summarize the clinical characteristics and the molecular genetics in patients with paediatric <jats:styled-content style=\"fixed-case\">PHPT<\/jats:styled-content> in China.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>Retrospective observational study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 59 paediatric <jats:styled-content style=\"fixed-case\">PHPT<\/jats:styled-content> patients (onset age &lt;18\u00a0years) admitted to Peking Union Medical College Hospital from 1975 to 2015 were retrospectively identified. A group of 118 adult <jats:styled-content style=\"fixed-case\">PHPT<\/jats:styled-content> patients who presented during the same period were selected for comparing clinical characteristics between the two groups. Germline mutation analyses of the <jats:italic><jats:styled-content style=\"fixed-case\">MEN<\/jats:styled-content>1, <jats:styled-content style=\"fixed-case\">CDC<\/jats:styled-content>73, <jats:styled-content style=\"fixed-case\">RET<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> CDKN<\/jats:styled-content>1B<\/jats:italic> and <jats:italic>Ca<jats:styled-content style=\"fixed-case\">SR<\/jats:styled-content><\/jats:italic> genes were performed in 24 patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Only one paediatric patient (1.7%) with <jats:styled-content style=\"fixed-case\">PHPT<\/jats:styled-content> was asymptomatic. Bone involvement, urolithiasis, acute pancreatitis and hypercalcaemic crisis were present in 86.4%, 39.0%, 6.8% and 10.2% of cases, respectively. Paediatric <jats:styled-content style=\"fixed-case\">PHPT<\/jats:styled-content> presented more commonly with rickets\/osteomalacia compared to adult <jats:styled-content style=\"fixed-case\">PHPT<\/jats:styled-content>. Fifty\u2010seven paediatric patients underwent surgery. Adenoma, hyperplasia, atypical adenoma and carcinoma occurred in 80.7%, 10.5%, 7.0% and 1.8% of cases, respectively. Of the 24 paediatric patients screened for genetic mutations, two patients were found to carry <jats:italic><jats:styled-content style=\"fixed-case\">MEN<\/jats:styled-content>1<\/jats:italic> mutations and six were found to carry <jats:italic><jats:styled-content style=\"fixed-case\">CDC<\/jats:styled-content>73<\/jats:italic> mutations. The mutation rate was 22.2% (4\/18) in sporadic patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Unlike adults with <jats:styled-content style=\"fixed-case\">PHPT<\/jats:styled-content>, most paediatric <jats:styled-content style=\"fixed-case\">PHPT<\/jats:styled-content> were symptomatic. Rickets\/osteomalacia was more common in paediatric patients than in their adult counterparts. Paediatric <jats:styled-content style=\"fixed-case\">PHPT<\/jats:styled-content> patients can be treated successfully with surgical intervention. Genetic screening of the <jats:italic><jats:styled-content style=\"fixed-case\">MEN<\/jats:styled-content>1<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">CDC<\/jats:styled-content>73<\/jats:italic> genes for mutations should be recommended in paediatric patients due to a relatively high mutation rate.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.13453","type":"journal-article","created":{"date-parts":[[2017,8,22]],"date-time":"2017-08-22T08:06:46Z","timestamp":1503389206000},"page":"865-873","source":"Crossref","is-referenced-by-count":29,"title":["Primary hyperparathyroidism in Chinese children and adolescents: A single\u2010centre experience at Peking Union Medical College Hospital"],"prefix":"10.1111","volume":"87","author":[{"given":"Wenbo","family":"Wang","sequence":"first","affiliation":[{"name":"Key laboratory of Endocrinology Ministry of Health Department of Endocrinology Peking Union Medical College Hospital Peking Union Medical College Chinese Academy of Medical Sciences  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Kong","sequence":"additional","affiliation":[{"name":"Key laboratory of Endocrinology Ministry of Health Department of Endocrinology Peking Union Medical College Hospital Peking Union Medical College Chinese Academy of Medical Sciences  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Nie","sequence":"additional","affiliation":[{"name":"Key laboratory of Endocrinology Ministry of Health Department of Endocrinology Peking Union Medical College Hospital Peking Union Medical College Chinese Academy of Medical Sciences  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Jiang","sequence":"additional","affiliation":[{"name":"Key laboratory of Endocrinology Ministry of Health Department of Endocrinology Peking Union Medical College Hospital Peking Union Medical College Chinese Academy of Medical Sciences  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7270-4902","authenticated-orcid":false,"given":"Mei","family":"Li","sequence":"additional","affiliation":[{"name":"Key laboratory of Endocrinology Ministry of Health Department of Endocrinology Peking Union Medical College Hospital Peking Union Medical College Chinese Academy of Medical Sciences  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weibo","family":"Xia","sequence":"additional","affiliation":[{"name":"Key laboratory of Endocrinology Ministry of Health Department of Endocrinology Peking Union Medical College Hospital Peking Union Medical College Chinese Academy of Medical Sciences  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xunwu","family":"Meng","sequence":"additional","affiliation":[{"name":"Key laboratory of Endocrinology Ministry of Health Department of Endocrinology Peking Union Medical College Hospital Peking Union Medical College Chinese Academy of Medical Sciences  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoping","family":"Xing","sequence":"additional","affiliation":[{"name":"Key laboratory of Endocrinology Ministry of Health Department of Endocrinology Peking Union Medical College Hospital Peking Union Medical College Chinese Academy of Medical Sciences  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0395-8789","authenticated-orcid":false,"given":"Ou","family":"Wang","sequence":"additional","affiliation":[{"name":"Key laboratory of Endocrinology Ministry of Health Department of Endocrinology Peking Union Medical College Hospital Peking Union Medical College Chinese Academy of Medical Sciences  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,9,13]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/89.12.921"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-0804"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-2268"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-012-3222-3"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2012.12.008"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1080\/21548331.1984.11702767"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-1230"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcma.2012.06.012"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2013.08.002"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.80.11.3107"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1048"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21188"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1301895"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.4274\/Jcrpe.1060"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2016-0018"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/omcr\/omw023"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12902-017-0197-z"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2007.10.006"},{"key":"e_1_2_8_20_1","first-page":"82","article-title":"An retrospective analysis of 13 cases of children with primary hyperparathyroidism","volume":"33","author":"Meng X","year":"1995","journal-title":"Chin J Pediatr"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjsurg.2016.03.019"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0166634"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12461"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030997"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.032201"},{"key":"e_1_2_8_26_1","first-page":"487","article-title":"Height and weight standardized growth charts for Chinese children and adolescents aged 0 to 18 years","volume":"47","author":"Li H","year":"2009","journal-title":"Chinese J Pediatr"},{"key":"e_1_2_8_27_1","first-page":"676","volume-title":"Tietz Textbook of Clinical Chemistry","author":"Moss DW","year":"1999"},{"issue":"2","key":"e_1_2_8_28_1","first-page":"N44","article-title":"Primary hyperparathyroidism in children and adolescents: the Johns Hopkins Children's Center experience 1984\u20102001","volume":"17","author":"Hsu SC","year":"2002","journal-title":"J Bone Miner Res"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1001\/archsurg.134.6.651"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-2914"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clnu.2015.05.019"},{"key":"e_1_2_8_32_1","first-page":"158","article-title":"Primary hyperparathyroidism in women: a tale of two cities\u2013New York and Beijing","volume":"45","author":"Bilezikian JP","year":"2000","journal-title":"Int J Fertil Womens Med"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/82.2.477"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2005.02371.x"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-2022"},{"key":"e_1_2_8_36_1","first-page":"509","article-title":"Primary hyperparathyroidism and rickets. A case report and review of the literature","volume":"39","author":"Theintz GE","year":"1984","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_8_37_1","first-page":"463","article-title":"Vitamin\u2010resistant rickets; a new deficiency disease and a common cause of dwarfism","volume":"66","author":"Scott WG","year":"1951","journal-title":"Am J Roentgenol Radium Ther"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12672-011-0100-8"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-0476"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0045567"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0000000000000443"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2016-0109"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.4158\/EP10337.RA"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.060702"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1002\/elps.200390023"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-2789"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa031237"}],"container-title":["Clinical Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcen.13453","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cen.13453","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T06:13:41Z","timestamp":1695536021000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cen.13453"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,13]]},"references-count":46,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["10.1111\/cen.13453"],"URL":"https:\/\/doi.org\/10.1111\/cen.13453","archive":["Portico"],"relation":{},"ISSN":["0300-0664","1365-2265"],"issn-type":[{"value":"0300-0664","type":"print"},{"value":"1365-2265","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,13]]}}}