{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T08:14:12Z","timestamp":1779351252211,"version":"3.51.4"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"4","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,10,1]]},"abstract":"<jats:sec>\n<jats:title>Objective<\/jats:title>\n<jats:p>Pituitary adenomas (PA) are rare in young patients, and additional studies are needed to fully understand their pathogenesis in this population. We describe the clinical and genetic characteristics of apparently sporadic PA in a cohort of young patients.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Design<\/jats:title>\n<jats:p>Clinical and molecular analysis of 235 patients (age \u2264 30 years) with PA. Clinicians from several Spanish and Chilean hospitals provided data.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Methods<\/jats:title>\n<jats:p>Genetic screening was performed via next-generation sequencing and comparative genomic hybridization array. Clinical variables were compared among paediatric, adolescent (&lt;19 years) and young adults\u2019 (\u226519\u201330 years) cohorts and types of adenomas. Phenotype\u2013genotype associations were examined.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>Among the total cohort, mean age was 17.3 years. Local mass effect symptoms were present in 22.0%, and prolactinomas were the most frequent (44.7%). Disease-causing germline variants were identified in 22 individuals (9.3%), more exactly in 13.1 and 4.7% of the populations aged between 0\u201319 and 19\u201330 years, respectively; genetically positive patients were younger at diagnosis and had larger tumour size. Healthy family carriers were also identified.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Conclusions<\/jats:title>\n<jats:p>Variants in genes associated with syndromic forms of PAs were detected in a large cohort of apparently sporadic pituitary tumours. We have identified novel variants in well-known genes and set the possibility of incomplete disease penetrance in carriers of <jats:italic>MEN1<\/jats:italic> alterations or a limited clinical expression of the syndrome. Despite the low penetrance observed, screening of <jats:italic>AIP<\/jats:italic> and <jats:italic>MEN1<\/jats:italic> variants in young patients and relatives is of clinical value.<\/jats:p>\n<\/jats:sec>","DOI":"10.1530\/eje-21-0075","type":"journal-article","created":{"date-parts":[[2021,7,27]],"date-time":"2021-07-27T15:03:17Z","timestamp":1627398197000},"page":"485-496","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-7","source":"Crossref","is-referenced-by-count":28,"title":["Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas"],"prefix":"10.1093","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8943-1429","authenticated-orcid":true,"given":"Idoia","family":"Mart\u00ednez de LaPiscina","sequence":"first","affiliation":[{"name":"1Biocruces Bizkaia Health Research Institute, University of the Basque Country (UPV-EHU), Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Diabetes y Enfermedades Metab\u00f3licas Asociadas (CIBERDEM), European Reference Network on Rare Endocrine Conditions (Endo-ERN), Barakaldo, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy","family":"Portillo Najera","sequence":"additional","affiliation":[{"name":"2Pediatric Department, Biocruces Bizkaia Health Research Institute, Alto Deba Hospital, UPV-EHU, Barakaldo, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Itxaso","family":"Rica","sequence":"additional","affiliation":[{"name":"3Pediatric Endocrinology Department, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, CIBERER, CIBERDEM, Endo-ERN, Barakaldo, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonia","family":"Gaztambide","sequence":"additional","affiliation":[{"name":"4Endocrinology Department, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV-EHU, CIBERER, CIBERDEM, Endo-ERN, Barakaldo, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7052-6436","authenticated-orcid":true,"given":"Susan M","family":"Webb","sequence":"additional","affiliation":[{"name":"5Department of Endocrinology\/Medicine, CIBERER U747, ISCIII, Research Center for Pituitary Diseases, Sant Pau Hospital, IIB-SPau, Universitat Aut\u00f2noma de Barcelona, Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alicia","family":"Santos","sequence":"additional","affiliation":[{"name":"5Department of Endocrinology\/Medicine, CIBERER U747, ISCIII, Research Center for Pituitary Diseases, Sant Pau Hospital, IIB-SPau, Universitat Aut\u00f2noma de Barcelona, Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Dolores","family":"Moure","sequence":"additional","affiliation":[{"name":"6Endocrinology Department, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, Endo-ERN, Barakaldo, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"Paja Fano","sequence":"additional","affiliation":[{"name":"7Endocrinology Service, Basurto University Hospital, Bilbo, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Isabel","family":"Hernandez","sequence":"additional","affiliation":[{"name":"8Institute of Maternal and Child Research (IDIMI), Faculty of Medicine, University of Chile, Santa Rosa 1234, IDIMI, Casilla, Santiago, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Jes\u00fas","family":"Chueca-Guindelain","sequence":"additional","affiliation":[{"name":"9Pediatric Endocrinology Unit, Navarra Complex Hospital, Navarra Institute for Health Research (IdiSNA), Pamplona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6599-6406","authenticated-orcid":true,"given":"Laura Cristina","family":"Hern\u00e1ndez-Ram\u00edrez","sequence":"additional","affiliation":[{"name":"10Laboratory of Genomics, Research Support Network, National Autonomous University of Mexico, National Institute of Medical Sciences and Nutrition Salvador Zubir\u00e1n, Tlalpan, Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfonso","family":"Soto","sequence":"additional","affiliation":[{"name":"11Endocrinology and Nutrition Department, Institute of Biomedicine of Seville (IBiS), Virgen del Roc\u00edo University Hospital, CSIC, University of Seville, Sevilla, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuria","family":"Vald\u00e9s","sequence":"additional","affiliation":[{"name":"12Endocrinology and Nutrition Department, Cabue\u00f1es University Hospital, Gij\u00f3n, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis","family":"Casta\u00f1o","sequence":"additional","affiliation":[{"name":"13Pediatric Endocrinology Department, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV-EHU, CIBERER, CIBERDEM, Endo-ERN, Barakaldo, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","container-title":["European Journal of 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