{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,2]],"date-time":"2025-05-02T13:55:37Z","timestamp":1746194137432,"version":"3.37.3"},"reference-count":43,"publisher":"Georg Thieme Verlag KG","issue":"01","funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"crossref","award":["NRF2021R1F1A104593011"],"award-info":[{"award-number":["NRF2021R1F1A104593011"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Exp Clin Endocrinol Diabetes"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Purpose Multiple endocrine neoplasia types 1 (MEN1) and 2 (MEN2) are\n                    inherited endocrine tumor syndromes caused by mutations in the MEN1 or\n                        RET genes. This study aimed to investigate clinical outcomes and\n                    molecular characteristics among children with MEN.<\/jats:p><jats:p>\n          Methods This study included eight patients from seven unrelated families.\n                    Data on clinical course, biochemical findings, and radiologic studies were\n                    collected by retrospective chart review. All diagnoses were genetically\n                    confirmed by Sanger sequencing of MEN1 in three MEN1 patients and\n                        RET in four patients with MEN2A and one patient with MEN2B.<\/jats:p><jats:p>\n          Results Three patients with MEN1 from two families presented with\n                    hypoglycemia at a mean age of 11\u00b12.6 years. Four patients with MEN2A\n                    were genetically diagnosed at a mean of 3.0\u00b12.2 years of age by family\n                    screening; one of them was prenatally diagnosed by chorionic villus sampling.\n                    Three patients with MEN2A underwent prophylactic thyroidectomy from 5 to 6 years\n                    of age, whereas one patient refused surgery. The patient with MEN2B presented\n                    with a tongue neuroma and medullary thyroid carcinoma at 6 years of age.\n                    Subsequently, he underwent a subtotal colectomy because of bowel perforation and\n                    submucosal ganglioneuromatosis at 18 years of age.<\/jats:p><jats:p>\n          Conclusion This study described the relatively long clinical course of\n                    pediatric MEN with a mean follow-up duration of 7.5\u00b13.8 years.\n                    Insulinoma was the first manifestation in children with MEN1. Early diagnosis by\n                    family screening during the asymptomatic period enabled early intervention. The\n                    patient with MEN2B exhibited the most aggressive clinical course.<\/jats:p>","DOI":"10.1055\/a-2212-7536","type":"journal-article","created":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T01:18:00Z","timestamp":1700183880000},"page":"39-46","source":"Crossref","is-referenced-by-count":3,"title":["Impact of Early Diagnostic and Therapeutic Interventions and Clinical\n                    Course in Children and Adolescents with Multiple Endocrine Neoplasia Types 1 and\n                    2"],"prefix":"10.1055","volume":"132","author":[{"given":"Ja Hye","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asan Medical Center, University of Ulsan\n                    College of Medicine, Seoul, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yena","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asan Medical Center, University of Ulsan\n                    College of Medicine, Seoul, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soojin","family":"Hwang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asan Medical Center, University of Ulsan\n                    College of Medicine, Seoul, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ji-Hee","family":"Yoon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asan Medical Center, University of Ulsan\n                    College of Medicine, Seoul, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gu-Hwan","family":"Kim","sequence":"additional","affiliation":[{"name":"Medical Genetics Center, Asan Medical Center, Seoul, Republic of\n                    Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han-Wook","family":"Yoo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asan Medical Center, University of Ulsan\n                    College of Medicine, Seoul, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin-Ho","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asan Medical Center, University of Ulsan\n                    College of Medicine, Seoul, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2023,12,22]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/s41574-021-00468-3","article-title":"Clinical aspects of multiple endocrine neoplasia type 1","volume":"17","author":"A Al-Salameh","year":"2021","journal-title":"Nat Rev Endocrinol"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1089\/thy.2014.0335","article-title":"Revised American Thyroid Association guidelines for the management of medullary\n                    thyroid carcinoma","volume":"25","author":"S A Wells","year":"2015","journal-title":"Thyroid"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1186\/1750-1172-1-45","article-title":"Multiple endocrine neoplasia type 2","volume":"1","author":"F Marini","year":"2006","journal-title":"Orphanet J Rare Dis"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.mce.2013.08.002","article-title":"Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4)","volume":"386","author":"R V Thakker","year":"2014","journal-title":"Mol Cell Endocrinol"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"e220411","DOI":"10.1530\/EC-22-0411","article-title":"Multiple endocrine neoplasia type 4: a new member of the MEN family","volume":"12","author":"H Singeisen","year":"2023","journal-title":"Endocr Connect"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"339","DOI":"10.3389\/fendo.2019.00339","article-title":"Multiple endocrine neoplasia type 1 (MEN1): An update and the significance of\n                    early genetic and clinical diagnosis","volume":"10","author":"CD C Kamilaris","year":"2019","journal-title":"Front Endocrinol (Lausanne)"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/j.tibs.2013.05.005","article-title":"Menin: a scaffold protein that controls gene expression and cell signaling","volume":"38","author":"S Matkar","year":"2013","journal-title":"Trends Biochem Sci"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"2644","DOI":"10.1210\/jc.2002-021422","article-title":"RET codon 634 mutations in multiple endocrine neoplasia type 2: variable\n                    clinical features and clinical outcome","volume":"88","author":"M K Pu\u00f1ales","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"3149","DOI":"10.1210\/jc.2013-1204","article-title":"Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an\n                    update","volume":"98","author":"S A Wells","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1007\/s12020-017-1322-5","article-title":"MEN1 in children and adolescents: Data from patients of a regional referral\n                    center for hereditary endocrine tumors","volume":"59","author":"L Vannucci","year":"2018","journal-title":"Endocrine"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.3346\/jkms.2016.31.6.1003","article-title":"Multiple endocrine neoplasia type 1 presenting as hypoglycemia due to\n                    insulinoma","volume":"31","author":"E B Kwon","year":"2016","journal-title":"J Korean Med Sci"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"E89","DOI":"10.1210\/jc.2013-1768","article-title":"Penetrance of functioning and nonfunctioning pancreatic neuroendocrine tumors in\n                    multiple endocrine neoplasia type 1 in the second decade of life","volume":"99","author":"T D Gon\u00e7alves","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"1568","DOI":"10.1210\/jc.2014-3659","article-title":"MEN1 disease occurring before 21 years old: A 160-patient cohort study from the\n                    Groupe d'\u00e9tude des Tumeurs Endocrines","volume":"100","author":"P Goudet","year":"2015","journal-title":"J Clin Endocrinol Metab"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1210\/jc.2018-01170","article-title":"UMD-MEN1 Database: An overview of the 370 MEN1 variants present in 1676 patients\n                    from the French population","volume":"104","author":"P Romanet","year":"2019","journal-title":"J Clin Endocrinol Metab"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.jss.2009.03.098","article-title":"Pediatric thyroid carcinoma: Incidence and outcomes in 1753 Patients","volume":"156","author":"A R Hogan","year":"2009","journal-title":"J Surg Res"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1097\/GIM.0b013e318216cc6d","article-title":"Multiple endocrine neoplasia type 2: An overview","volume":"13","author":"J Moline","year":"2011","journal-title":"Genet Med"},{"key":"ref17","first-page":"138","article-title":"Two cases of multiple endocrine neoplasia type 2B, early diagnosis by genetic\n                    analysis and prophylactic total thyroidectomy","volume":"15","author":"H Y Lee","year":"2010","journal-title":"J Korean Soc Pediatr Endocrinol"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint\n                    consensus recommendation of the American College of Medical Genetics and\n                    Genomics and the Association for Molecular Pathology","volume":"17","author":"S Richards","year":"2015","journal-title":"Genet Med"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1002\/(SICI)1098-2264(200005)28:1<58::AID-GCC7>3.0.CO;2-2","article-title":"MEN1 gene mutation analysis of high-grade neuroendocrine lung carcinoma","volume":"28","author":"L V Debelenko","year":"2000","journal-title":"Genes Chromosom Cancer"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1038\/s41467-018-03099-x","article-title":"Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals\n                    distinct subtypes of high-grade neuroendocrine lung tumors","volume":"9","author":"J George","year":"2018","journal-title":"Nat Commun"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1089\/thy.2008.0403","article-title":"Medullary thyroid cancer: management guidelines of the American Thyroid\n                    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A review of the literature","volume":"25","author":"D Giannis","year":"2020","journal-title":"J Buon"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1111\/cen.14727","article-title":"Update on the clinical management of multiple endocrine neoplasia type 1","volume":"97","author":"CR C Pieterman","year":"2022","journal-title":"Clin Endocrinol (Oxf)"},{"key":"ref24","first-page":"e25076","volume-title":"Ectopic insulinoma diagnosed by 68Ga-Exendin-4\u200aPET\/CT: A case report and\n                    review of literature","author":"X Zhang","year":"2021"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1002\/bjs.11632","article-title":"Surgery for multiple endocrine neoplasia type 1-related insulinoma: Long-term\n                    outcomes in a large international cohort","volume":"107","author":"D J Beek","year":"2020","journal-title":"Br J Surg"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1111\/1754-9485.12464","article-title":"Splenic scintigraphy for further differentiation of unclear\n                    68Ga-DOTATOC-PET\/CT findings: Strengths and limitations","volume":"60","author":"C Werner","year":"2016","journal-title":"J Med Imaging Radiat Oncol"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/s12902-020-00671-9","article-title":"Differentiation of insulinoma from accessory spleen by 99mTc-labelled\n                    heat-denaturated red blood cell scintigraphy: Case report","volume":"21","author":"E Gezer","year":"2021","journal-title":"BMC Endocr Disord"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"1926","DOI":"10.1210\/jc.2016-3865","article-title":"Utility of FDG-PET imaging for risk stratification of pancreatic neuroendocrine\n                    tumors in MEN1","volume":"102","author":"E R Kornaczewski Jackson","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/j.jamcollsurg.2015.04.005","article-title":"Results of (68)Gallium-DOTATATE PET\/CT scanning in patients with\n                    multiple endocrine neoplasia type 1","volume":"221","author":"S M Sadowski","year":"2015","journal-title":"J Am Coll Surg"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"e1108","DOI":"10.1097\/MD.0000000000001108","article-title":"Postoperative complications after prophylactic thyroidectomy for very young\n                    patients with multiple endocrine neoplasia type 2: Retrospective cohort\n                    analysis","volume":"94","author":"W P Kluijfhout","year":"2015","journal-title":"Medicine (Baltimore)"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1515\/jpem-2018-0444","article-title":"Present status of prophylactic thyroidectomy in pediatric multiple endocrine\n                    neoplasia 2: A nationwide survey in Japan 1997\u20132017","volume":"32","author":"R Matsushita","year":"2019","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"R15","DOI":"10.1530\/EJE-21-0753","article-title":"Global endocrinolgy: Geographical variation in the profile of RET variants in\n                    patients with medullary thyroid cancer: A comprehensive review","volume":"186","author":"RM B Maciel","year":"2022","journal-title":"Eur J Endocrinol"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1530\/EC-18-0506","article-title":"Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer\n                    patients: The BrasMEN study","volume":"8","author":"RM B Maciel","year":"2019","journal-title":"Endocr Connect"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"2990","DOI":"10.1210\/jc.2012-1230","article-title":"Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1)","volume":"97","author":"R V Thakker","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1007\/s00423-018-1679-9","article-title":"Over-diagnosis of potential malignant behavior in MEN 2A-associated\n                    pheochromocytomas using the PASS and GAPP algorithms","volume":"403","author":"A Stenman","year":"2018","journal-title":"Langenbeck's Arch Surg"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1007\/s00268-004-7637-4","article-title":"Multiple endocrine neoplasia 2B syndrome due to codon 918 mutation: Clinical\n                    manifestation and course in early and late onset disease","volume":"28","author":"M Brauckhoff","year":"2004","journal-title":"World J Surg"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1016\/j.jpedsurg.2016.10.054","article-title":"Identification of intestinal ganglioneuromatosis leads to early diagnosis of\n                    MEN2B: Role of rectal biopsy","volume":"52","author":"S Gfroerer","year":"2017","journal-title":"J Pediatr Surg"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/S2213-8587(18)30336-X","article-title":"Natural history, treatment, and long-term follow up of patients with multiple\n                    endocrine neoplasia type 2B: An international, multicentre, retrospective\n                    study","volume":"7","author":"F Castinetti","year":"2019","journal-title":"Lancet Diabetes Endocrinol"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"847603","DOI":"10.1155\/2011\/847603","article-title":"Pediatric ethics guidelines for hereditary medullary thyroid cancer","volume":"2011","author":"M S Rosenthal","year":"2011","journal-title":"Int J Pediatr Endocrinol"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"e1014","DOI":"10.1210\/clinem\/dgaa800","article-title":"The management of neuroendocrine tumors of the lung in MEN1: Results from the\n                    Dutch MEN1 study group","volume":"106","author":"MF M van den Broek","year":"2021","journal-title":"J Clin Endocrinol Metab"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"bvac001","DOI":"10.1210\/jendso\/bvac001","article-title":"MEN1 surveillance guidelines: Time to (re)think?","volume":"6","author":"P J Newey","year":"2022","journal-title":"J Endocr Soc"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1111\/cen.13480","article-title":"Clinical features and prognosis of thymic neuroendocrine tumours associated with\n                    multiple endocrine neoplasia type 1: A single-centre study, systematic review\n                    and meta-analysis","volume":"87","author":"L Ye","year":"2017","journal-title":"Clin Endocrinol (Oxf)"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"4725","DOI":"10.1210\/jc.2007-1005","article-title":"RET genetic screening in patients with medullary thyroid cancer and their\n                    relatives: Experience with 807 individuals at one center","volume":"92","author":"R Elisei","year":"2007","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Experimental and Clinical Endocrinology &amp; Diabetes"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2212-7536.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,5]],"date-time":"2024-11-05T11:31:30Z","timestamp":1730806290000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2212-7536"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,16]]},"references-count":43,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2024,1,18]]},"published-print":{"date-parts":[[2024,1]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2212-7536","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0947-7349","1439-3646"],"issn-type":[{"type":"print","value":"0947-7349"},{"type":"electronic","value":"1439-3646"}],"subject":[],"published-other":{"date-parts":[[2023,11,16]]},"published":{"date-parts":[[2023,11,16]]}}}