{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T07:56:00Z","timestamp":1792828560489,"version":"4.5.0"},"reference-count":56,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,8,1]],"date-time":"2018-08-01T00:00:00Z","timestamp":1533081600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,8,1]],"date-time":"2018-08-01T00:00:00Z","timestamp":1533081600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health (NIH)","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Current Opinion in Endocrine and Metabolic Research"],"published-print":{"date-parts":[[2018,8]]},"DOI":"10.1016\/j.coemr.2018.04.002","type":"journal-article","created":{"date-parts":[[2018,4,24]],"date-time":"2018-04-24T12:07:24Z","timestamp":1524571644000},"page":"19-24","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":17,"special_numbering":"C","title":["An update on the genetics of benign pituitary adenomas in children and adolescents"],"prefix":"10.1016","volume":"1","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6829-6205","authenticated-orcid":false,"given":"Fady","family":"Hannah-Shmouni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantine A.","family":"Stratakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.coemr.2018.04.002_bib1","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/S0168-9525(98)01476-0","article-title":"How many homeobox genes does it take to make a pituitary gland?","volume":"14","author":"Watkins-Chow","year":"1998","journal-title":"Trends Genet"},{"key":"10.1016\/j.coemr.2018.04.002_bib2","first-page":"1135","article-title":"Pituitary adenomas in childhood and adolescence","volume":"79","author":"Kane","year":"1994","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.coemr.2018.04.002_bib3","doi-asserted-by":"crossref","first-page":"4317","DOI":"10.1210\/jcem.84.12.6215","article-title":"Pituitary tumors in children and adolescents","volume":"84","author":"Lafferty","year":"1999","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.coemr.2018.04.002_bib4","first-page":"209","article-title":"Pituitary adenomas in childhood and adolescence. Results of transsphenoidal surgery","volume":"80","author":"Partington","year":"1994","journal-title":"J\u00a0Neurosurg"},{"key":"10.1016\/j.coemr.2018.04.002_bib5","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1227\/00006123-199502000-00004","article-title":"Pediatric pituitary adenomas","volume":"36","author":"Mindermann","year":"1995","journal-title":"Neurosurgery"},{"key":"10.1016\/j.coemr.2018.04.002_bib6","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1586\/eem.10.47","article-title":"Anterior pituitary adenomas: inherited syndromes, novel genes and molecular pathways","volume":"5","author":"Xekouki","year":"2010","journal-title":"Expet Rev Endocrinol Metabol"},{"key":"10.1016\/j.coemr.2018.04.002_bib7","doi-asserted-by":"crossref","first-page":"1891","DOI":"10.1210\/jc.2006-2513","article-title":"Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families","volume":"92","author":"Daly","year":"2007","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.coemr.2018.04.002_bib8","doi-asserted-by":"crossref","first-page":"E1242","DOI":"10.1210\/jc.2015-1869","article-title":"Landscape of familial isolated and young-onset pituitary adenomas: prospective diagnosis in AIP mutation carriers","volume":"100","author":"Hernandez-Ramirez","year":"2015","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.coemr.2018.04.002_sref9","doi-asserted-by":"crossref","first-page":"2363","DOI":"10.1056\/NEJMoa1408028","article-title":"Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation","volume":"371","author":"Trivellin","year":"2014","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.coemr.2018.04.002_sref10","doi-asserted-by":"crossref","first-page":"2836","DOI":"10.1210\/jc.2017-00161","article-title":"Somatic USP8 gene mutations are a common cause of pediatric cushing disease","volume":"102","author":"Faucz","year":"2017","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.coemr.2018.04.002_sref11","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1530\/ERC-17-0131","article-title":"Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease","volume":"24","author":"Hernandez-Ramirez","year":"2017","journal-title":"Endocr Relat Cancer"},{"key":"10.1016\/j.coemr.2018.04.002_bib12","first-page":"117","article-title":"Incidence and late prognosis of cushing's syndrome: a population-based study","volume":"86","author":"Lindholm","year":"2001","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.coemr.2018.04.002_sref13","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/ng.3166","article-title":"Mutations in the deubiquitinase gene USP8 cause Cushing's disease","volume":"47","author":"Reincke","year":"2015","journal-title":"Nat Genet"},{"key":"10.1016\/j.coemr.2018.04.002_bib14","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1111\/j.1365-2265.2008.03404.x","article-title":"P53 gene mutation in an atypical corticotroph adenoma with Cushing's disease","volume":"70","author":"Kawashima","year":"2009","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.coemr.2018.04.002_bib15","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":"Thakker","year":"2012","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.coemr.2018.04.002_bib16","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/humu.20605","article-title":"Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene","author":"Lemos","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1016\/j.coemr.2018.04.002_bib17","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1530\/eje.0.1510709","article-title":"Cushing's disease in childhood as the first manifestation of multiple endocrine neoplasia syndrome type 1","volume":"151","author":"Rix","year":"2004","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.coemr.2018.04.002_bib18","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1111\/j.1399-0004.2010.01406.x","article-title":"The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes","volume":"78","author":"Stratakis","year":"2010","journal-title":"Clin Genet"},{"key":"10.1016\/j.coemr.2018.04.002_bib19","series-title":"Gene reviews (R)","article-title":"Multiple endocrine neoplasia type 2","author":"Marquard","year":"1993"},{"key":"10.1016\/j.coemr.2018.04.002_bib20","first-page":"1","article-title":"Cushing disease in a patient with multiple endocrine neoplasia type 2B","volume":"4","author":"Kasturi","year":"2017","journal-title":"J\u00a0Clin Transl Endocrinol Case Rep"},{"key":"10.1016\/j.coemr.2018.04.002_bib21","doi-asserted-by":"crossref","first-page":"T195","DOI":"10.1530\/ERC-17-0243","article-title":"MEN4 and CDKN1B mutations: the latest of the MEN syndromes","volume":"24","author":"Alrezk","year":"2017","journal-title":"Endocr Relat Cancer"},{"key":"10.1016\/j.coemr.2018.04.002_bib22","doi-asserted-by":"crossref","first-page":"3321","DOI":"10.1210\/jc.2006-2843","article-title":"Germline CDKN1B\/p27Kip1 mutation in multiple endocrine neoplasia","volume":"92","author":"Georgitsi","year":"2007","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.coemr.2018.04.002_bib23","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1111\/j.1365-2265.2008.03379.x","article-title":"Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes in multiple endocrine neoplasia (MEN1) syndrome patients without any detectable MEN1 gene mutations","volume":"70","author":"Igreja","year":"2009","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.coemr.2018.04.002_bib24","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1530\/ERC-13-0486","article-title":"p27 variant and corticotropinoma susceptibility: a genetic and in\u00a0vitro study","volume":"21","author":"Sekiya","year":"2014","journal-title":"Endocr Relat Cancer"},{"key":"10.1016\/j.coemr.2018.04.002_bib25","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1056\/NEJMc1309730","article-title":"PRKACB and Carney complex","volume":"370","author":"Forlino","year":"2014","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.coemr.2018.04.002_bib26","doi-asserted-by":"crossref","first-page":"M85","DOI":"10.1530\/EJE-15-0209","article-title":"Carney complex: an update","volume":"173","author":"Correa","year":"2015","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.coemr.2018.04.002_bib27","doi-asserted-by":"crossref","first-page":"4041","DOI":"10.1210\/jcem.86.9.7903","article-title":"Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation","volume":"86","author":"Stratakis","year":"2001","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.coemr.2018.04.002_bib28","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1097\/00005792-198507000-00007","article-title":"The complex of myxomas, spotty pigmentation, and endocrine overactivity","volume":"64","author":"Carney","year":"1985","journal-title":"Medicine"},{"key":"10.1016\/j.coemr.2018.04.002_bib29","first-page":"918","article-title":"Corticotropinoma as a component of Carney complex","volume":"1","author":"Laura","year":"2017","journal-title":"J\u00a0Endocr Soc"},{"key":"10.1016\/j.coemr.2018.04.002_bib30","doi-asserted-by":"crossref","first-page":"2390","DOI":"10.1210\/jc.2007-2611","article-title":"The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas","volume":"93","author":"Leontiou","year":"2008","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.coemr.2018.04.002_bib31","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1126\/science.1126100","article-title":"Pituitary adenoma predisposition caused by germline mutations in the AIP gene","volume":"312","author":"Vierimaa","year":"2006","journal-title":"Science"},{"key":"10.1016\/j.coemr.2018.04.002_bib32","doi-asserted-by":"crossref","first-page":"1688","DOI":"10.1056\/NEJM199112123252403","article-title":"Activating mutations of the stimulatory G protein in the McCune-Albright syndrome","volume":"325","author":"Weinstein","year":"1991","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.coemr.2018.04.002_bib33","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1136\/mp.55.1.58","article-title":"An R201H activating mutation of the GNAS1 (Gsalpha) gene in a corticotroph pituitary adenoma","volume":"55","author":"Riminucci","year":"2002","journal-title":"Mol Pathol"},{"key":"10.1016\/j.coemr.2018.04.002_bib34","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1111\/j.1365-2265.2007.02941.x","article-title":"Cushing's syndrome due to a pituitary corticotropinoma in a child with tuberous sclerosis: an association or a coincidence?","volume":"67","author":"Nandagopal","year":"2007","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.coemr.2018.04.002_bib35","doi-asserted-by":"crossref","first-page":"E1487","DOI":"10.1210\/jc.2014-1016","article-title":"Germline and somatic DICER1 mutations in a pituitary blastoma causing infantile-onset Cushing's disease","volume":"99","author":"Sahakitrungruang","year":"2014","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.coemr.2018.04.002_bib36","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1530\/ERC-16-0091","article-title":"Screening for GPR101 defects in pediatric pituitary corticotropinomas","volume":"23","author":"Trivellin","year":"2016","journal-title":"Endocr Relat Cancer"},{"key":"10.1016\/j.coemr.2018.04.002_bib37","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/j.ajhg.2017.03.011","article-title":"Germline mutations in CDH23, encoding cadherin-related 23, are associated with both familial and sporadic pituitary adenomas","volume":"100","author":"Zhang","year":"2017","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.coemr.2018.04.002_bib38","doi-asserted-by":"crossref","first-page":"55","DOI":"10.3389\/fendo.2017.00055","article-title":"Transcriptome analysis showed a differential signature between invasive and non-invasive corticotrophinomas","volume":"8","author":"de Araujo","year":"2017","journal-title":"Front Endocrinol (Lausanne)"},{"key":"10.1016\/j.coemr.2018.04.002_bib39","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1007\/s11102-015-0701-2","article-title":"Incidence and prevalence of acromegaly in a large US health plan database","volume":"19","author":"Burton","year":"2016","journal-title":"Pituitary"},{"key":"10.1016\/j.coemr.2018.04.002_bib40","doi-asserted-by":"crossref","first-page":"2018","DOI":"10.1210\/endo.140.5.6731","article-title":"Heterozygous gsp mutation renders ion channels of human somatotroph adenoma cells unresponsive to growth hormone-releasing hormone","volume":"140","author":"Yasufuku-Takano","year":"1999","journal-title":"Endocrinology"},{"key":"10.1016\/j.coemr.2018.04.002_bib41","doi-asserted-by":"crossref","first-page":"R31","DOI":"10.1172\/JCI11887","article-title":"Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly","volume":"107","author":"Hayward","year":"2001","journal-title":"J\u00a0Clin Investig"},{"key":"10.1016\/j.coemr.2018.04.002_bib42","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1038\/340692a0","article-title":"GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours","volume":"340","author":"Landis","year":"1989","journal-title":"Nature"},{"key":"10.1016\/j.coemr.2018.04.002_bib43","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1530\/ERC-15-0038","article-title":"X-linked acrogigantism syndrome: clinical profile and therapeutic responses","volume":"22","author":"Beckers","year":"2015","journal-title":"Endocr Relat Cancer"},{"key":"10.1016\/j.coemr.2018.04.002_bib44","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1530\/EJE-15-1044","article-title":"Very low frequency of germline GPR101 genetic variation and no biallelic defects with AIP in a large cohort of patients with sporadic pituitary adenomas","volume":"174","author":"Lecoq","year":"2016","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.coemr.2018.04.002_bib45","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1530\/ERC-15-0320","article-title":"Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients","volume":"22","author":"Rostomyan","year":"2015","journal-title":"Endocr Relat Cancer"},{"key":"10.1016\/j.coemr.2018.04.002_bib46","doi-asserted-by":"crossref","first-page":"E373","DOI":"10.1210\/jc.2009-2556","article-title":"Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study","volume":"95","author":"Daly","year":"2010","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.coemr.2018.04.002_bib47","first-page":"43","article-title":"Genetic mutations in sporadic pituitary adenomas\u2013what to screen for? Nature reviews","volume":"11","author":"Lecoq","year":"2015","journal-title":"Endocrinology"},{"key":"10.1016\/j.coemr.2018.04.002_bib48","doi-asserted-by":"crossref","first-page":"1955","DOI":"10.1210\/jc.2013-3826","article-title":"Acromegaly and McCune-Albright syndrome","volume":"99","author":"Salenave","year":"2014","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.coemr.2018.04.002_bib49","doi-asserted-by":"crossref","first-page":"2404","DOI":"10.1210\/jc.2012-1274","article-title":"Somatic GNAS mutation causes widespread and diffuse pituitary disease in acromegalic patients with McCune-Albright syndrome","volume":"97","author":"Vortmeyer","year":"2012","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.coemr.2018.04.002_bib50","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1007\/s12020-015-0540-y","article-title":"Early onset acromegaly associated with a novel deletion in CDKN1B 5'UTR region","volume":"49","author":"Sambugaro","year":"2015","journal-title":"Endocrine"},{"key":"10.1016\/j.coemr.2018.04.002_bib51","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1159\/000371819","article-title":"MEN1, MEN4, and Carney complex: pathology and molecular genetics","volume":"103","author":"Schernthaner-Reiter","year":"2016","journal-title":"Neuroendocrinology"},{"key":"10.1016\/j.coemr.2018.04.002_sref52","doi-asserted-by":"crossref","first-page":"E710","DOI":"10.1210\/jc.2014-4297","article-title":"Pituitary adenoma with paraganglioma\/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice","volume":"100","author":"Xekouki","year":"2015","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.coemr.2018.04.002_bib53","doi-asserted-by":"crossref","first-page":"E357","DOI":"10.1210\/jc.2011-1179","article-title":"Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?","volume":"97","author":"Xekouki","year":"2012","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.coemr.2018.04.002_bib54","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1016\/B978-0-444-52902-2.00053-9","article-title":"Neurofibromatosis type 1 (NF1): diagnosis and management","volume":"115","author":"Ferner","year":"2013","journal-title":"Handbook Clin Neurol"},{"key":"10.1016\/j.coemr.2018.04.002_bib55","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1002\/gcc.20289","article-title":"Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients","volume":"45","author":"Wimmer","year":"2006","journal-title":"Genes Chromosomes Cancer"},{"key":"10.1016\/j.coemr.2018.04.002_bib56","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1530\/ERC-14-0465","article-title":"Is IGSF1 involved in human pituitary tumor formation?","volume":"22","author":"Faucz","year":"2015","journal-title":"Endocr Relat Cancer"}],"container-title":["Current Opinion in Endocrine and Metabolic Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2451965017300273?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2451965017300273?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T14:50:15Z","timestamp":1762527015000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2451965017300273"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8]]},"references-count":56,"alternative-id":["S2451965017300273"],"URL":"https:\/\/doi.org\/10.1016\/j.coemr.2018.04.002","relation":{},"ISSN":["2451-9650"],"issn-type":[{"value":"2451-9650","type":"print"}],"subject":[],"published":{"date-parts":[[2018,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"An update on the genetics of benign pituitary adenomas in children and adolescents","name":"articletitle","label":"Article Title"},{"value":"Current Opinion in Endocrine and Metabolic Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.coemr.2018.04.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}]}}