{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T12:53:34Z","timestamp":1786971214759,"version":"build-2736575974"},"reference-count":20,"publisher":"Korean Society of Pediatric Endocrinology","issue":"4","license":[{"start":{"date-parts":[[2022,1,17]],"date-time":"2022-01-17T00:00:00Z","timestamp":1642377600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["e-apem.org"],"crossmark-restriction":true},"short-container-title":["Ann Pediatr Endocrinol Metab"],"published-print":{"date-parts":[[2022,12,31]]},"abstract":"<jats:p>Childhood adrenocortical carcinoma (ACC) is a rare disease that is mostly linked to familial cancer syndrome. Although the prevalence of ACC is extremely low in children, it is clinically important to diagnose ACC early because age and tumor stage are closely related to prognosis. From this perspective, understanding the underlying genetics and possible symptoms of ACC is crucial in managing ACC with familial cancer syndromes. In this report, we present the case of a 3-year-old girl who initially presented with symptoms of precocious puberty and was later found to have ACC by imaging analysis. On genetic analysis, the patient was found to have a &lt;i&gt;MEN1&lt;\/i&gt; gene mutation. &lt;i&gt;MEN1&lt;\/i&gt; mutations are found in patients with multiple endocrine neoplasia type 1 (MEN1), usually precipitating multiple endocrine tumors, including pituitary adenoma, parathyroid hyperplasia, and adrenal tumors. Although &lt;i&gt;MEN1&lt;\/i&gt; mutation is usually inherited in an autosomal dominant manner, neither of the patient\u2019s parents had the same mutation, making hers a case of sporadic &lt;i&gt;MEN1&lt;\/i&gt; mutation with initial presentation of ACC. The clinical course and further investigations of this patient are discussed in detail in this report.<\/jats:p>","DOI":"10.6065\/apem.2142100.050","type":"journal-article","created":{"date-parts":[[2022,1,17]],"date-time":"2022-01-17T13:15:49Z","timestamp":1642425349000},"page":"315-319","update-policy":"https:\/\/doi.org\/10.6065\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Adrenocortical carcinoma and a sporadic MEN1 mutation in a 3-year-old girl: a case report"],"prefix":"10.6065","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1598-3500","authenticated-orcid":true,"given":"Sung Eun","family":"Kim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2402-9321","authenticated-orcid":true,"given":"Na Yeong","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0918-0565","authenticated-orcid":true,"given":"Won Kyoung","family":"Cho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9745-0731","authenticated-orcid":true,"given":"Jisook","family":"Yim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0735-0287","authenticated-orcid":true,"given":"Jae Wook","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8632-0168","authenticated-orcid":true,"given":"Myungshin","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5866-119X","authenticated-orcid":true,"given":"Jae Hee","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5188-7041","authenticated-orcid":true,"given":"Min Ho","family":"Jung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1971-0232","authenticated-orcid":true,"given":"Byung-Kyu","family":"Suh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1108-2788","authenticated-orcid":true,"given":"Moon Bae","family":"Ahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4096","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2019.00339"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-1230"},{"key":"ref3","first-page":"1568","volume-title":"MEN1 disease occurring before 21 years old: a 160-patient cohort study from the Groupe d'etude des Tumeurs Endocrines","author":"Goudet","year":"2015"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1159\/000488855"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2010.03.002"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-2198"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1200\/jco.2012.46.3711"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2016.31.6.1003"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.3345\/kjp.2018.61.5.135"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2010.08.010"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1327579"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1097\/med.0000000000000540"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1097\/mph.0b013e3181647c03"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-911x(199902)32:2<106::aid-mpo7>3.0.co;2-j"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2013.02.017"},{"key":"ref17","first-page":"102","volume-title":"Using etomidate in a 2-month-old infant with cushing syndrome due to adrenocortical carcinoma","author":"Kwon","year":"2022"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.4082\/kjfm.2015.36.3.150"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-009-1051-8"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2010.25.7.1077"}],"container-title":["Annals of Pediatric Endocrinology &amp; 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